Variant: 12-64875735-T-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64875735-T-C p.Met309Thr missense TBK1 1 9136 1.0945709E-4 4568 0 4.04773E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.926T>C p.Met309Thr benign
upstream_gene TBK1 ENST00000536906 n.-2452T>C NA NA
upstream_gene TBK1 ENST00000545025 n.-2086T>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 4.04773E-6 NA NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes F amyotrophic lateral sclerosis Caucasian HET 113 0.539823 99 PASS