Variant: 12-64860717-T-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64860717-T-A p.Val132Glu missense TBK1 1 9212 1.0855406E-4 4606 0 4.01349E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.395T>A p.Val132Glu probably
downstream_gene TBK1 ENST00000538890 c.*2522T>A NA NA
downstream_gene TBK1 ENST00000539810 c.*2531T>A NA NA
downstream_gene TBK1 ENST00000540417 c.*2538T>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 4.01349E-6 NA NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes M amyotrophic lateral sclerosis Caucasian HET 47 0.40425533 99 PASS