Variant: 12-64860723-G-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64860723-G-A p.Arg134His missense TBK1 1 9224 1.0841284E-4 4612 0 3.18878E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.401G>A p.Arg134His probably
downstream_gene TBK1 ENST00000538890 c.*2528G>A NA NA
downstream_gene TBK1 ENST00000539810 c.*2537G>A NA NA
downstream_gene TBK1 ENST00000540417 c.*2544G>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 1.20382E-5 3.18878E-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 62 0.5483871 99 PASS