Individual #00000274

Reference B H I Ruszymah et al. (2005)
Gender F
Geographic origin Malaysia
Ethnic origin Malay
Population -
Remarks -
Microattribution -
Panel size 1
Diseases NSHL
Owner name Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000289 DNA PCR GJB2 1 Nuur Athirah Binti Mohd Daud



Variants

1 entry on 1 page. Showing entry 1.
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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     
13 Unknown +/. g.20189473C>T V37I B H I Ruszymah et al. (2005), dbSNP, (OMIM 0023), ClinVar GJB2_000001 rs72474224 4/5 - Nuur Athirah Binti Mohd Daud GJB2 - NM_004004.6:c.109G>A - r.(?) p.(Val37Ile) - ClinVar
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