Variant: 12-64858234-C-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64858234-C-T p.Arg117* stop_gained TBK1 1 9184 1.0888502E-4 4592 0 8.33729E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
stop_gained TBK1 ENST00000331710 c.349C>T p.Arg117* NA
downstream_gene TBK1 ENST00000538890 c.*39C>T NA NA
downstream_gene TBK1 ENST00000539810 c.*48C>T NA NA
downstream_gene TBK1 ENST00000540417 c.*55C>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
8.25873E-6 NA 8.33729E-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 136 0.52205884 99 PASS