Variant: 12-64854098-A-G



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64854098-A-G p.Ile73Val missense TBK1 1 9244 1.08178276E-4 4622 0 4.89041E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.217A>G p.Ile73Val benign
missense TBK1 ENST00000538890 c.217A>G p.Ile73Val benign
missense TBK1 ENST00000539810 c.61A>G p.Ile21Val benign
missense TBK1 ENST00000540417 c.217A>G p.Ile73Val benign


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
4.18725E-5 NA 4.89041E-5 3.18532E-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 140 0.4857143 99 PASS