Variant: 12-64890760-A-G



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64890760-A-G missense_variant TBK1 1 8928 1.1200717E-4 4464 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant TBK1 ENST00000331710 c.1792A>G p.Met598Val benign
downstream_gene_variant TBK1 ENST00000541805 n.*1049A>G NA NA
upstream_gene_variant TBK1 ENST00000545392 n.-34A>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 1.59527E-5 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 15 88 LIKELY