Variant: 12-64854009-T-G



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64854009-T-G p.Ile43Arg missense TBK1 1 9182 1.0890873E-4 4591 0 8.77178E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.128T>G p.Ile43Arg probably
missense TBK1 ENST00000538890 c.128T>G p.Ile43Arg probably
missense TBK1 ENST00000540417 c.128T>G p.Ile43Arg probably
5_prime_UTR TBK1 ENST00000539810 c.-29T>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
8.41935E-6 NA 8.77178E-6 NA 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 18 0.6111111 99 LIKELY