Variant: 12-64890760-A-G



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64890760-A-G p.Met598Val missense TBK1 1 8996 1.11160516E-4 4498 0 3.18451E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.1792A>G p.Met598Val benign
downstream_gene TBK1 ENST00000541805 n.*1049A>G NA NA
upstream_gene TBK1 ENST00000545392 n.-34A>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 1.59527E-5 3.18451E-5 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 15 0.73333335 88 LIKELY