Variant: 12-64868152-G-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64868152-G-A p.Arg228His missense TBK1 2 9186 2.1772263E-4 4593 0 3.18776E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.683G>A p.Arg228His probably


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
8.2409E-6 NA 1.60898E-5 3.18776E-5 NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes F amyotrophic lateral sclerosis Caucasian HET 98 0.5102041 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 147 0.4829932 99 PASS