Genomic variant #0001973555

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.71350138C>A
Reference Copied from the Exome Variant Server
DB-ID NHSL2_000047
Frequency 1/10286
Freq. EA 0/6605
Freq. AA 1/3681
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NHSL2 NM_001013627.2 ?/? c.281-1791C>A r.(?) p.(Gly418Val)
RGAG4 NM_001024455.3 ?/? c.1253G>T r.(?) p.(Gly418Val)