Genomic variant #0001101087

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.62677277del
Reference Copied from the Exome Variant Server
DB-ID CHRM1_000011
Frequency 1/12518
Freq. EA 0/8254
Freq. AA 1/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CHRM1 NM_000738.2 ?/? c.1296del r.(?) p.(Leu433Cysfs*129)