Variant: 12-64889529-A-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64889529-A-C p.Gln565Pro missense TBK1 1 8702 1.1491611E-4 4351 0 4.34329E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.1694A>C p.Gln565Pro probably
non_coding_transcript_exon TBK1 ENST00000541805 n.288A>C NA NA
upstream_gene TBK1 ENST00000545392 n.-1265A>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 4.34329E-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 60 0.51666665 99 PASS