Unique variants in the LDLR gene

Information The variants shown are described using the NM_000527.4 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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Effect     
Reported     
Exon     
AscendingDNA change (cDNA)     
Published as     
RNA change     
Protein     
GVS function     
Clinical classification     
DNA change (genomic) (hg38)     
Published as     
Reference     
DB-ID     
dbSNP ID     
Frequency     
Variant remarks     
Owner     
+/. 1 - c.-152C>T - r.(=) p.(=) - - g.11089397C>T CT at −152 K L Khoo et al. (2000), ClinVar LDLR_000037 - 1/9 - Nuur Athirah Binti Mohd Daud
+/. 1 2 c.77_78del - r.(?) p.(Arg26Metfs*25) - ClinVar g.11100232_11100233del GA deleted at 77 K L Khoo et al. (2000), dbSNP, ClinVar LDLR_000038 rs879254400 1/9 - Nuur Athirah Binti Mohd Daud
+/., -/. 2 2 c.81C>T p.Cys27Cys r.(=) p.(=) - Benign, ClinVar g.11100236C>T - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}, Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar LDLR_000002 rs2228671 1/147 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
./. 1 2i c.190+4A>T - r.spl? p.? - ClinVar g.11100349A>T - Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar LDLR_000023 rs769446356 1/147 - Nuur Athirah Binti Mohd Daud
./. 1 2i c.190+56G>A - r.(=) p.(=) - ClinVar g.11100401G>A - Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar LDLR_000003 rs3745677 3/147 - Nuur Athirah Binti Mohd Daud
+/. 2 2i c.190+58C>T - r.(=) p.(=) - - g.11100403C>T - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}, Alyaa Al-Khateeb et al. (2011), dbSNP LDLR_000004 rs3745678 7/147 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 2 3 c.268G>A - r.(?) p.(Asp90Asn) - ClinVar g.11102741G>A D69N, GAT>AAT at 268 K L Khoo et al. (2000), dbSNP, ClinVar, M Azian et ai. (2006), dbSNP, ClinVar LDLR_000039 rs749038326 1/33, 1/9 - Nuur Athirah Binti Mohd Daud
-?/. 1 3 c.300C>T - r.(=) p.(=) - ClinVar g.11102773C>T - Alyaa Al-Khateeb et al. (2011)dbSNP LDLR_000005 rs766709484 1/147 - Nuur Athirah Binti Mohd Daud
+/., ./. 3 3 c.301G>A - r.(?) p.(Glu101Lys) - Pathogenic/Likely pathogenic, ClinVar g.11102774G>A p.Glu101Lys in exon 3 {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}, Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar, 1 more item LDLR_000024 rs144172724 11/147, 3/10 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 2 3i c.313+1G>A - r.spl? p.? - - g.11102787G>A G>A at 313+1 (OMIM 0054), ClinVar, K L Khoo et al. (2000), ClinVar, (OMIM 0054) LDLR_000031 - 1/10, 1/40 - Nuur Athirah Binti Mohd Daud
+/. 1 4 c.344G>A - r.(?) p.(Arg115His) - ClinVar g.11105250G>A CGC>CAC at 344 K L Khoo et al. (2000), dbSNP, ClinVar LDLR_000040 rs201102461 2/9 - Nuur Athirah Binti Mohd Daud
+/., +?/. 2 4 c.415G>C - r.(?) p.(Asp139His) - Likely pathogenic, ClinVar g.11105321G>C - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}, Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar LDLR_000025 rs879254517 1/147 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 4 c.530C>T - r.(?) p.(Ser177Leu) - Pathogenic/Likely pathogenic g.11105436C>T - Noor Shafina Mohd Nor et al.(2019) LDLR_000060 rs121908026 - - Nur Aisyah Athirah
+/., +?/. 2 4 c.601G>A - r.(?) p.(Glu201Lys) - Likely pathogenic​, ClinVar g.11105507G>A - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}, Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar LDLR_000026 rs879254589 9/147 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 4 c.660delC - r.(?) p.(Asp221Thrfs*44) - - g.11105566delC c.660delC in exon 4 Kah Lin Khoo et al. (2016) LDLR_000053 - 1/10 - Nuur Athirah Binti Mohd Daud
+/. 2 5 c.757C>T - r.(?) p.(Arg253Trp) - - g.11106627C>T CGG>TGG at 757 K L Khoo et al. (2000), ClinVar LDLR_000041 - 1/10, 1/9 - Nuur Athirah Binti Mohd Daud
+/., +?/. 6 5 c.763T>A - r.(?) p.(Cys255Ser) - Likely pathogenic​, ClinVar g.11106633T>A C234S, Cys255Ser in exon 5 dbSNP, ClinVar, {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}, 3 more items LDLR_000027 rs879254668 1/10, 10/147, 2/33, 4/40, 7/33 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 6 c.829G>A - r.(?) p.(Glu277Lys) - - g.11107403G>A GAG>AAG at 829 K L Khoo et al. (2000), ClinVar LDLR_000001 - 1 - Nuur Athirah Binti Mohd Daud
+/., ./. 3 6 c.910G>A - r.(?) p.(Asp304Asn) - Pathogenic/Likely pathogenic, ClinVar g.11107484G>A Asp304Asn in exon 6 {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}, 2 more items LDLR_000006 rs121908030 1/10, 7/147 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/., -/. 2 6i c.940+36G>A - r.(=) p.(=) - Benign, ClinVar g.11107550G>A - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}, Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar LDLR_000007 rs13306513 3/147 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 6i c.940+775G>A - r.(=) p.(=) - - g.11108289G>A - Say-Hean Lye et al. (2013), dbSNP LDLR_000036 rs2569556 1 - Nuur Athirah Binti Mohd Daud
+?/. 1 6i c.940+1187G>T - r.(=) p.(=) - - g.11108701G>T - Livy Alex et al. (2012), dbSNP LDLR_000035 rs61318752 1/2 - Nuur Athirah Binti Mohd Daud
+/. 1 7 c.986G>A - r.(?) p.(Cys329Tyr) - ClinVar g.11110697G>A TGC>TAC at 986 K L Khoo et al. (2000), dbSNP, ClinVar LDLR_000045 rs761954844 2/10 - Nuur Athirah Binti Mohd Daud
+/. 1 7i c.1060+7C>A - r.(=) p.(=) - - g.11110778C>A c.1060+7T>C Alyaa Al-Khateeb et al. (2011), dbSNP LDLR_000008 rs2738442 18/147 - Nuur Athirah Binti Mohd Daud
+/. 1 7i c.1060+7C>T c.1060+7T>C r.(=) p.(=) - Uncertain significance g.11110778C>T - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18} LDLR_000059 rs2738442 - - Nur Aisyah Athirah
+/. 1 7i c.1060+10G>C - r.(=) p.(=) - - g.11110781G>C - Alyaa Al-Khateeb et al. (2011), ClinVar LDLR_000009 - 5/147 - Nuur Athirah Binti Mohd Daud
+/. 2 8 c.1132C>T - r.(?) p.(Gln378*) - ClinVar g.11111585C>T CAG>TAG at 1132 K L Khoo et al. (2000), dbSNP, ClinVar LDLR_000046 rs879254802 1, 1/10 - Nuur Athirah Binti Mohd Daud
-?/. 1 8i c.1186+41T>A - r.(=) p.(=) - ClinVar g.11111680T>A - Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar LDLR_000010 rs536387604 1/147 - Nuur Athirah Binti Mohd Daud
+/., ./. 2 9 c.1194C>T p.Ile398Ile r.(=) p.(=) - Conflicting interpretations of pathogenicity, ClinVar g.11113285C>T - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}, Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar LDLR_000011 rs13306498 5/147 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 2 9 c.1216C>T - r.(?) p.(Arg406Trp) - - g.11113307C>T R385W ClinVar, M Azian et al. (2006), ClinVar LDLR_000032 - 1/40, 2/33 - Nuur Athirah Binti Mohd Daud
+/. 2 9 c.1241T>G - r.(?) p.(Leu414Arg) - ClinVar g.11113332T>G CTG>CGG at 1242, p.Leu414Arg in exon 9 K L Khoo et al. (2000), dbSNP, ClinVar, Kah Lin Khoo et al. (2016), dbSNP, ClinVar LDLR_000047 rs748554592 1/5, 2/10 - Nuur Athirah Binti Mohd Daud
+/. 1 9 c.1268T>C - r.(?) p.(Ile423Thr) - ClinVar g.11113359T>C ATC>ACC at 1269 K L Khoo et al. (2000), dbSNP, ClinVar LDLR_000042 rs879254849 1/9 - Nuur Athirah Binti Mohd Daud
./. 1 9 c.1284C>G - r.(?) p.(Asn428Lys) - ClinVar g.11113375C>G AAC>AAG at 1283 K L Khoo et al. (2000), dbSNP, ClinVar LDLR_000051 rs368708058 1 - Nuur Athirah Binti Mohd Daud
-/. 1 9i c.1359-30C>T - r.(=) p.(=) - ClinVar g.11113505C>T - Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar LDLR_000012 rs1003723 2/147 - Nuur Athirah Binti Mohd Daud
-?/. 1 10 c.1411A>G - r.(?) p.(Arg471Gly) - ClinVar g.11113587A>G - Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar LDLR_000013 rs879254891 17/147 - Nuur Athirah Binti Mohd Daud
-/. 2 10 c.1413A>G - r.(=) p.(=) - ClinVar g.11113589A>G c.1413G>A, R450R dbSNP, ClinVar, M Azian et al. (2006), dbSNP, ClinVar LDLR_000033 rs5930 15/40, 4/33 - Nuur Athirah Binti Mohd Daud
+/. 1 10 c.1432G>A - r.(?) p.(Gly478Arg) - - g.11113608G>A GGG>AGG at 1432 K L Khoo et al. (2000), ClinVar LDLR_000048 - 1/10 - Nuur Athirah Binti Mohd Daud
+/. 1 10 c.1474G>A - r.(?) p.(Asp492Asn) - - g.11113650G>A GAC>AAC at 1474 K L Khoo et al. (2000), ClinVar LDLR_000049 - 1/10 - Nuur Athirah Binti Mohd Daud
./. 1 10i c.1586+5G>C - r.spl? p.? - ClinVar g.11113767G>C c.1586+5 G to C in intron 10 Kah Lin Khoo et al. (2016), dbSNP, ClinVar LDLR_000055 rs781362878 1/5 - Nuur Athirah Binti Mohd Daud
+/., -/. 3 11 c.1617C>T p.Pro539Pro r.(=) p.(=) - Benign, ClinVar g.11116124C>T N510N {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}, Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar, 1 more item LDLR_000014 rs5929 4/33, 6/147 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/., ./. 2 11i c.1705+56C>T - r.(=) p.(=) - Likely benign, ClinVar g.11116268C>T - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}, Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar LDLR_000015 rs4508523 12/147 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/., -?/. 2 11i c.1705+112C>G - r.(=) p.(=) - Likely benign, ClinVar g.11116324C>G - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}, Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar LDLR_000016 rs879254995 1/147 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 2 11i c.1705+117T>G - r.(=) p.(=) - - g.11116329T>G - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}, Alyaa Al-Khateeb et al. (2011) LDLR_000019 - 2/147 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
-/. 1 11i c.1706-69G>T - r.(=) p.(=) - ClinVar g.11116790G>T - Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar LDLR_000018 rs7259278 1/147 - Nuur Athirah Binti Mohd Daud
-/. 1 11i c.1706-55A>C - r.(=) p.(=) - ClinVar g.11116804A>C - Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar LDLR_000017 rs2738447 6/147 - Nuur Athirah Binti Mohd Daud
+/. 1 12 c.1706_1845dup - r.(?) p.(Asp616Ilefs*96) - - g.11116859_11116998dup - Alyaa Al-Khateeb et al. (2011) LDLR_000028 - 2/147 - Nuur Athirah Binti Mohd Daud
./. 1 12 c.1729T>C - r.(?) p.(Trp577Arg) - ClinVar g.11116882T>C p.Trp576Arg in exon 12 Kah Lin Khoo et al. (2016), dbSNP, ClinVar LDLR_000056 rs879255000 1/5 - Nuur Athirah Binti Mohd Daud
+/., ./. 4 12, 12i c.1773C>T p.Asn591Asn r.(=) p.(=) - Benign/Likely benign​, ClinVar g.11116926C>T c.1773T>C, N570N dbSNP, ClinVar, {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}, 2 more items LDLR_000020 rs688 19/40, 5/33, 7/147 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
./. 2 13 c.1959T>C - r.(=) p.(=) - ClinVar g.11120205T>C V632V Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar, M Azian et al. (2006), dbSNP, ClinVar LDLR_000021 rs5925 1/147, 7/33 - Nuur Athirah Binti Mohd Daud
+/. 1 14 c.1996_2012del - r.(?) p.(Trp666Profs*45) - ClinVar g.11120378_11120394del c.1996_2012del17 Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar LDLR_000030 rs879255104 4/147 - Nuur Athirah Binti Mohd Daud
+/. 1 14 c.2050G>A - r.(?) p.(Ala684Thr) - ClinVar g.11120432G>A GCC>ACC at 2048 K L Khoo et al. (2000), dbSNP, ClinVar LDLR_000044 rs774730452 1/9 - Nuur Athirah Binti Mohd Daud
+/. 1 14 c.2087G>A - r.(?) p.(Cys696Tyr) - ClinVar g.11120469G>A TGC>TAC at 2087 K L Khoo et al. (2000), dbSNP, ClinVar LDLR_000043 rs879255134 1/9 - Nuur Athirah Binti Mohd Daud
./. 1 14 c.2100C>G - r.(?) p.(Asp700Glu) - ClinVar g.11120482C>G - Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar LDLR_000029 rs759858813 5/147 - Nuur Athirah Binti Mohd Daud
+/. 1 14 c.2108_2114dup - r.(?) p.(Arg706Alafs*13) - ClinVar g.11120490_11120496dup TGCTGGCins2108 K L Khoo et al. (2000), dbSNP, ClinVar LDLR_000050 rs879255141 1/10 - Nuur Athirah Binti Mohd Daud
+/., +?/. 4 14 c.2132G>A - r.(?) p.(Cys711Tyr) - Likely pathogenic, ClinVar g.11120514G>A Cys711Tyr in exon 14 J K Chahil et al.(2012), Kah Lin Khoo et al. (2016), dbSNP, ClinVar LDLR_000052 rs879255145 1, 3/10 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
-?/. 1 15 c.2209A>G - r.(?) p.(Arg737Gly) - ClinVar g.11123242A>G R716G M Azian et al. (2006), dbSNP, ClinVar LDLR_000058 rs879255165 1/33 - Nuur Athirah Binti Mohd Daud
+/., -/. 2 15 c.2232A>G p.Arg744Arg r.(=) p.(=) - Benign​, ClinVar g.11123265A>G - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}, Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar LDLR_000022 rs5927 5/147 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 15i c.2311+1G>T - r.spl? p.? - - g.11123345G>T c.2311+1 G to T in intron 15 Kah Lin Khoo et al. (2016), ClinVar LDLR_000057 - 1/2 - Nuur Athirah Binti Mohd Daud
+?/. 1 15i c.2312-1679T>C - r.(=) p.(=) - - g.11126329T>C - Livy Alex et al. (2012), dbSNP LDLR_000034 rs10422244 1/2 - Nuur Athirah Binti Mohd Daud
+/. 1 16 c.2389G>A - r.(?) p.(Val797Met) - - g.11128085G>A Val797Met in exon 16 Kah Lin Khoo et al. (2016), ClinVar LDLR_000054 - 1/10 - Nuur Athirah Binti Mohd Daud
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