Genomic variant #0000816210

Individual ID 00000001
Chromosome X
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.70444443C>A
Reference -
DB-ID GJB1_000006
dbSNP ID rs113014279
Frequency 0.005952
Allele Count 3
Allele Number 504
Combined Depth 1946
Homozygous -
Heterozygote -
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GJB1 NM_000166.5 ./. - c.*34C>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin