Variant: 12-64860828-A-G



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64860828-A-G p.Gln169Arg missense TBK1 1 9296 1.0757315E-4 4648 0 4.07242E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.506A>G p.Gln169Arg probably
downstream_gene TBK1 ENST00000538890 c.*2633A>G NA NA
downstream_gene TBK1 ENST00000539810 c.*2642A>G NA NA
downstream_gene TBK1 ENST00000540417 c.*2649A>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 4.07242E-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 27 0.5185185 99 PASS