Variant: 12-64849716-T-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64849716-T-C p.Asn22Asn synonymous TBK1 487 9290 0.052421957 4645 12 0.0332246


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
synonymous TBK1 ENST00000331710 c.66T>C p.Asn22Asn NA
synonymous TBK1 ENST00000538890 c.66T>C p.Asn22Asn NA
synonymous TBK1 ENST00000540417 c.66T>C p.Asn22Asn NA
5_prime_UTR TBK1 ENST00000539810 c.-91T>C NA NA
downstream_gene XPOT ENST00000332707 c.*7805T>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
0.0332246 NA 0.0323773 0.0331529 0.0100806 0.01125 NA


Carrier

Gender count:
Ancestry count: