Variant: 12-64849716-T-C



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64849716-T-C synonymous_variant TBK1 483 9184 0.05259146 4592 12


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
synonymous_variant TBK1 ENST00000331710 c.66T>C p.Asn22Asn NA
synonymous_variant TBK1 ENST00000538890 c.66T>C p.Asn22Asn NA
synonymous_variant TBK1 ENST00000540417 c.66T>C p.Asn22Asn NA
5_prime_UTR_variant TBK1 ENST00000539810 c.-91T>C NA NA
downstream_gene_variant 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 NA 0.0100806 0.01125 NA


Carrier

Gender count:
259 Male
210 Female
2 Ambiguous
0 NA
Ethnicity count:
1 African
442 Caucasian
0 EastAsian
3 Hispanic
8 MiddleEastern
2 SouthAsian
15 NA