Variant: 12-64858234-C-T



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64858234-C-T stop_gained TBK1 1 9116 1.09697234E-4 4558 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
stop_gained TBK1 ENST00000331710 c.349C>T p.Arg117* NA
downstream_gene_variant TBK1 ENST00000538890 c.*39C>T NA NA
downstream_gene_variant TBK1 ENST00000539810 c.*48C>T NA NA
downstream_gene_variant 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:
1 Male
0 Female
0 Ambiguous
0 NA
Ethnicity count:
0 African
1 Caucasian
0 EastAsian
0 Hispanic
0 MiddleEastern
0 SouthAsian
0 NA

Public Available Gender Phenotype Ethnicity GT DP GQ FILTER
Yes M amyotrophic lateral sclerosis Caucasian HET 136 99 PASS