Genomic variant #0001973564

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.71350390T>C
Reference Copied from the Exome Variant Server
DB-ID NHSL2_000060
Frequency 4/9837
Freq. EA 1/6503
Freq. AA 3/3334
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NHSL2 NM_001013627.2 ?/? c.281-1539T>C r.(?) p.(Asn334Ser)
RGAG4 NM_001024455.3 ?/? c.1001A>G r.(?) p.(Asn334Ser)