Variant #0000002255 (NC_000023.11:g.71224228C>T, NM_000166.5:c.521C>T (GJB1))

Individual ID 00000479
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.71224228C>T
Published as -
Reference Nortina Shahrizaila et al. (2014), dbSNP, ClinVar
DB-ID GJB1_000003
dbSNP ID rs1602349540
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 15:20:39 +08:00 (CST)
Date last edited 2021-08-01 13:13:24 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
GJB1 NM_000166.5 +/. - c.521C>T - r.(?) p.(Pro174Leu) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000525 DNA PCR;SEQ GJB1 4 Nuur Athirah Binti Mohd Daud