Genomic variant #0001982083

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.110005943C>T
Reference Copied from the Exome Variant Server
DB-ID CHRDL1_000058
Frequency 4/10563
Freq. EA 0/6728
Freq. AA 4/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CHRDL1 NM_145234.3 ?/? c.187G>A r.(?) p.(Val63Met)