Variant: 12-64889308-G-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64889308-G-A p.Asp523Asn missense TBK1 1 8816 1.1343013E-4 4408 0 4.94332E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.1567G>A p.Asp523Asn benign
non_coding_transcript_exon TBK1 ENST00000541805 n.161G>A NA NA
upstream_gene TBK1 ENST00000545392 n.-1486G>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
4.94332E-5 NA 3.18606E-5 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 53 0.6037736 99 PASS