Variant: 12-64895141-C-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64895141-C-T p.Arg724Cys missense TBK1 2 9302 2.1500753E-4 4651 0 9.06185E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.2170C>T p.Arg724Cys probably
downstream_gene TBK1 ENST00000545392 n.*3440C>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
9.06185E-5 NA 5.97029E-5 NA 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 40 0.45 99 PASS
Yes M amyotrophic lateral sclerosis African HET 208 0.52884614 99 PASS