Variant: 12-64879776-G-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64879776-G-A p.Arg440Gln missense TBK1 1 8914 1.1218308E-4 4457 0 1.30591E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.1319G>A p.Arg440Gln probably
downstream_gene TBK1 ENST00000545025 n.*510G>A NA NA
non_coding_transcript_exon TBK1 ENST00000536906 n.635G>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
8.27075E-6 NA 1.30591E-5 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 26 0.46153846 99 PASS