View genomic variant #0000000106

Chromosome 7
Allele Unknown
Affects function (reported) Not classified
Affects function (concluded) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.117230411G>C
Reference -
DB-ID CFTR_000003
Frequency -
Average frequency (large NGS studies) 0.00031 View details
Owner Florian Bayersdorfer




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CFTR NM_000492.3 ./? 13 c.1684G>C r.(?) p.(Val562Leu)