Individual #00000620

Reference Nor Idahriani Muhd Nor
Gender -
Geographic origin Malaysia
Ethnic origin Malay
Population -
Remarks -
Microattribution -
Panel size 1
Diseases FH
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-05-09 15:00:02 +08:00 (CST)
Date last edited 2021-08-01 12:31:38 +08:00 (CST)


Phenotypes

Familial hypercholesterolemia (FH)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000221 Tendinous xanthomata, Arcus cornealis prior to age 45 years - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000687 DNA DHPLC;PCR;SEQ LDLR 16 Nur Aisyah Athirah



Variants

16 entries on 1 page. Showing entries 1 - 16.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
19 Unknown +/. g.11100236C>T - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18} LDLR_000002 rs2228671 - - Nur Aisyah Athirah LDLR 2 NM_000527.4:c.81C>T p.Cys27Cys r.(=) p.(=) - Benign
19 Unknown +/. g.11100403C>T - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18} LDLR_000004 rs3745678 - - Nur Aisyah Athirah LDLR 2i NM_000527.4:c.190+58C>T - r.(=) p.(=) - -
19 Unknown +/. g.11102774G>A - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18} LDLR_000024 rs144172724 - - Nur Aisyah Athirah LDLR 3 NM_000527.4:c.301G>A - r.(?) p.(Glu101Lys) - Pathogenic/Likely pathogenic
19 Unknown +/. g.11105321G>C - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18} LDLR_000025 rs879254517 - - Nur Aisyah Athirah LDLR 4 NM_000527.4:c.415G>C - r.(?) p.(Asp139His) - Likely pathogenic
19 Unknown +/. g.11105507G>A - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18} LDLR_000026 rs879254589 - - Nur Aisyah Athirah LDLR 4 NM_000527.4:c.601G>A - r.(?) p.(Glu201Lys) - Likely pathogenic​
19 Unknown +/. g.11106633T>A - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18} LDLR_000027 rs879254668 - - Nur Aisyah Athirah LDLR 5 NM_000527.4:c.763T>A - r.(?) p.(Cys255Ser) - Likely pathogenic​
19 Unknown +/. g.11107484G>A - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18} LDLR_000006 rs121908030 - - Nur Aisyah Athirah LDLR 6 NM_000527.4:c.910G>A - r.(?) p.(Asp304Asn) - Pathogenic/Likely pathogenic
19 Unknown +/. g.11107550G>A - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18} LDLR_000007 rs13306513 - - Nur Aisyah Athirah LDLR 6i NM_000527.4:c.940+36G>A - r.(=) p.(=) - Benign
19 Unknown +/. g.11110778C>T - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18} LDLR_000059 rs2738442 - - Nur Aisyah Athirah LDLR 7i NM_000527.4:c.1060+7C>T c.1060+7T>C r.(=) p.(=) - Uncertain significance
19 Unknown +/. g.11113285C>T - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18} LDLR_000011 rs13306498 - - Nur Aisyah Athirah LDLR 9 NM_000527.4:c.1194C>T p.Ile398Ile r.(=) p.(=) - Conflicting interpretations of pathogenicity
19 Unknown +/. g.11116124C>T - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18} LDLR_000014 rs5929 - - Nur Aisyah Athirah LDLR 11 NM_000527.4:c.1617C>T p.Pro539Pro r.(=) p.(=) - Benign
19 Unknown +/. g.11116268C>T - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18} LDLR_000015 rs4508523 - - Nur Aisyah Athirah LDLR 11i NM_000527.4:c.1705+56C>T - r.(=) p.(=) - Likely benign
19 Unknown +/. g.11116324C>G - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18} LDLR_000016 rs879254995 - - Nur Aisyah Athirah LDLR 11i NM_000527.4:c.1705+112C>G - r.(=) p.(=) - Likely benign
19 Unknown +/. g.11116329T>G - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18} LDLR_000019 - - - Nur Aisyah Athirah LDLR 11i NM_000527.4:c.1705+117T>G - r.(=) p.(=) - -
19 Unknown +/. g.11116926C>T - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18} LDLR_000020 rs688 - - Nur Aisyah Athirah LDLR 12i NM_000527.4:c.1773C>T p.Asn591Asn r.(=) p.(=) - Benign/Likely benign​
19 Unknown +/. g.11123265A>G - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18} LDLR_000022 rs5927 - - Nur Aisyah Athirah LDLR 15 NM_000527.4:c.2232A>G p.Arg744Arg r.(=) p.(=) - Benign​
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