Variant: 12-64889307-C-G



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64889307-C-G p.Ile522Met missense TBK1 1 8798 1.13662194E-4 4399 0 2.4717E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.1566C>G p.Ile522Met benign
non_coding_transcript_exon TBK1 ENST00000541805 n.160C>G NA NA
upstream_gene TBK1 ENST00000545392 n.-1487C>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
2.4717E-5 NA 2.38962E-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 61 0.52459013 99 PASS