Unique variants in the GCDH gene

Information The variants shown are described using the NM_000159.3 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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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 4 c.227A>C - r.(?) p.(Gln76Pro) - ClinVar g.12891930A>C - Siti Aishah Abdul Wahab et al. (2016), dbSNP, ClinVar GCDH_000008 rs748185335 2/6 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.382C>T - r.(?) p.(Arg128*) - ClinVar g.12893530C>T - Siti Aishah Abdul Wahab et al. (2016), dbSNP, ClinVar GCDH_000007 rs752334462 1/8 - Nuur Athirah Binti Mohd Daud
+/. 1 6 c.392A>T - r.(?) p.(Glu131Val) - - g.12893540A>T - Siti Aishah Abdul Wahab et al. (2016) GCDH_000009 rs1300977671 1/6 - Nuur Athirah Binti Mohd Daud
+/. 1 9 c.892G>A - r.(?) p.(Ala298Thr) - ClinVar g.12896949G>A - Siti Aishah Abdul Wahab et al. (2016), dbSNP, ClinVar GCDH_000001 rs761765983 1/8 - Nuur Athirah Binti Mohd Daud
./. 1 10 c.1060G>A - r.(?) p.(Gly354Ser) - ClinVar g.12897406G>A - Siti Aishah Abdul Wahab et al. (2016), dbSNP, ClinVar GCDH_000003 rs768925619 1/8 - Nuur Athirah Binti Mohd Daud
./. 1 - c.1063C>T - r.(?) p.(Arg355Cys) - ClinVar g.12897409C>T - Siti Aishah Abdul Wahab et al. (2016), dbSNP, ClinVar GCDH_000005 rs781477694 2/8 - Nuur Athirah Binti Mohd Daud
+/. 1 11 c.1157G>A - r.(?) p.(Arg386Gln) - - g.12897777G>A - Siti Aishah Abdul Wahab et al. (2016) GCDH_000010 - 2/6 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.1168G>T - r.(?) p.(Gly390Trp) - - g.12897788G>T - Siti Aishah Abdul Wahab et al. (2016) GCDH_000004 rs876660106 1/8 - Nuur Athirah Binti Mohd Daud
+/. 2 11i c.1244-2A>C - r.spl? p.? - ClinVar g.12899466A>C - Siti Aishah Abdul Wahab et al. (2016), dbSNP, ClinVar GCDH_000002 rs199999619 1/6, 1/8 - Nuur Athirah Binti Mohd Daud
?/. 1 - c.1261G>A - r.(?) p.(Ala421Thr) - ClinVar g.12899485G>A - Siti Aishah Abdul Wahab et al. (2016), dbSNP, ClinVar GCDH_000006 rs151201155 1/8 - Nuur Athirah Binti Mohd Daud
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