Genomic variant #0001973553

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.71350048T>C
Reference Copied from the Exome Variant Server
DB-ID NHSL2_000052
Frequency 1/10372
Freq. EA 0/6631
Freq. AA 1/3741
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NHSL2 NM_001013627.2 ?/? c.281-1881T>C r.(?) p.(Tyr448Cys)
RGAG4 NM_001024455.3 ?/? c.1343A>G r.(?) p.(Tyr448Cys)