Genomic variant #0000000021

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.34785291T>G
Reference dbSNP
DB-ID GJB3_000001
Frequency -
Average frequency (large NGS studies) Variant not found in online data sets
Owner admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GJB3 NM_024009.2 ./. - c.529T>G r.(?) p.(Tyr177Asp)