Genomic variant #0000993541

Individual ID 00000001
Chromosome X
Allele Unknown
Affects function (reported) Not classified
Affects function (concluded) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.71221539C>G
Reference dbSNP
DB-ID GJB1_000001
Frequency 0.684
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     
GJB1 NM_000166.5 ./. - c.-1813C>G - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arraySNP - 905346 Admin