Variant #0000002257 (NC_000023.11:g.71224198G>A, NM_000166.5:c.491G>A (GJB1))

Individual ID 00000480
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.71224198G>A
Published as -
Reference Nortina Shahrizaila et al. (2014)dbSNP
DB-ID GJB1_000005
dbSNP ID rs1241595912
Frequency 1/18
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner 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 2021-03-03 15:40:27 +08:00 (CST)
Date last edited 2021-09-05 15:07:26 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
GJB1 NM_000166.5 +/. - c.491G>A - r.(?) p.(Arg164Gln) ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000526 DNA PCR;SEQ GJB1 1 Nuur Athirah Binti Mohd Daud