Variant: 12-64889553-G-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64889553-G-A p.Arg573His missense+splice_region TBK1 1 8506 1.1756407E-4 4253 0 8.46253E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense+splice_region TBK1 ENST00000331710 c.1718G>A p.Arg573His NA
missense TBK1 ENST00000331710 c.1718G>A p.Arg573His probably
splice_region TBK1 ENST00000331710 c.1718G>A p.Arg573His NA
non_coding_transcript_exon TBK1 ENST00000541805 n.312G>A NA NA
upstream_gene TBK1 ENST00000545392 n.-1241G>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
8.46253E-5 NA 3.62867E-5 6.3743E-5 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 20 0.3 99 PASS