Variant: 12-64849714-A-C



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64849714-A-C missense_variant TBK1 1 9188 1.08837616E-4 4594 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant TBK1 ENST00000331710 c.64A>C p.Asn22His probably
missense_variant TBK1 ENST00000538890 c.64A>C p.Asn22His probably
missense_variant TBK1 ENST00000540417 c.64A>C p.Asn22His probably
5_prime_UTR_variant TBK1 ENST00000539810 c.-93A>C NA NA
downstream_gene_variant XPOT ENST00000332707 c.*7803A>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 3.98457E-6 NA NA NA NA


Carrier

Gender count:
1 Male
0 Female
0 Ambiguous
0 NA
Ethnicity count:
0 African
1 Caucasian
0 EastAsian
0 Hispanic
0 MiddleEastern
0 SouthAsian
0 NA

Public Available Gender Phenotype Ethnicity GT DP GQ FILTER
Yes M amyotrophic lateral sclerosis Caucasian HET 44 99 PASS