Variant #0000001229 (NC_000013.11:g.20189323_20189325del, NM_004004.6:c.257_259delCGC (GJB2))

Individual ID 00000242
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.20189323_20189325del
Published as -
Reference Siti Aishah Zainal et al. (2012)
DB-ID GJB2_000010
dbSNP ID -
Frequency 1/32
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 2020-12-10 15:42:35 +08:00 (CST)
Date last edited 2020-12-14 17:48:07 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
GJB2 NM_004004.6 +/. - c.257_259delCGC - r.(?) p.(Pro87del) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000257 DNA DHPLC;SEQ GJB2 13 Nuur Athirah Binti Mohd Daud