Variant: 12-64889303-A-G



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64889303-A-G p.Asp521Gly missense TBK1 1 8784 1.1384335E-4 4392 0 7.9647E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.1562A>G p.Asp521Gly possibly
non_coding_transcript_exon TBK1 ENST00000541805 n.156A>G NA NA
upstream_gene TBK1 ENST00000545392 n.-1491A>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 7.9647E-6 NA NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes M amyotrophic lateral sclerosis Caucasian HET 10 0.7 76 PASS