Individual #00000258

Reference A Asma et al. (2011)
Gender -
Geographic origin Malaysia
Ethnic origin -
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
Date created 2020-12-14 15:12:21 +08:00 (CST)
Date last edited 2020-12-14 17:37:31 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000273 DNA PCR GJB2 2 Nuur Athirah Binti Mohd Daud



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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 A Asma et al. (2011), dbSNP, (OMIM 0023), ClinVar GJB2_000001 rs72474224 3/5 - Nuur Athirah Binti Mohd Daud GJB2 - NM_004004.6:c.109G>A - r.(?) p.(Val37Ile) - ClinVar
13 Unknown +/. g.20189511C>T W24X A Asma et al. (2011), dbSNP, (OMIM 0003), ClinVar GJB2_000002 rs104894396 1/5 - Nuur Athirah Binti Mohd Daud GJB2 - NM_004004.6:c.71G>A - r.(?) p.(Trp24*) - ClinVar
Legend   How to query