Variant: 12-64860760-G-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64860760-G-A p.Gly146Gly synonymous TBK1 1 9222 1.0843635E-4 4611 0 8.23818E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
synonymous TBK1 ENST00000331710 c.438G>A p.Gly146Gly NA
downstream_gene TBK1 ENST00000538890 c.*2565G>A NA NA
downstream_gene TBK1 ENST00000539810 c.*2574G>A NA NA
downstream_gene TBK1 ENST00000540417 c.*2581G>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
8.23818E-6 NA 7.97983E-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 49 0.5714286 99 PASS