Genomic variant #0001973543

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.71349781C>T
Reference Copied from the Exome Variant Server
DB-ID NHSL2_000039
Frequency 4/9767
Freq. EA 0/6455
Freq. AA 4/3312
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NHSL2 NM_001013627.2 ?/? c.281-2148C>T r.(?) p.(Arg537His)
RGAG4 NM_001024455.3 ?/? c.1610G>A r.(?) p.(Arg537His)