Variant: 12-64878159-C-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64878159-C-T p.Arg357* stop_gained TBK1 1 9198 1.0871929E-4 4599 0 7.96629E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
stop_gained TBK1 ENST00000331710 c.1069C>T p.Arg357* NA
non_coding_transcript_exon TBK1 ENST00000545025 n.339C>T NA NA
upstream_gene TBK1 ENST00000536906 n.-28C>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 7.96629E-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 135 0.4888889 99 PASS