Variant: 12-64889308-G-A



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64889308-G-A missense_variant TBK1 1 8748 1.1431184E-4 4374 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant TBK1 ENST00000331710 c.1567G>A p.Asp523Asn benign
non_coding_transcript_exon_variant TBK1 ENST00000541805 n.161G>A NA NA
upstream_gene_variant 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:
1 Male
0 Female
0 Ambiguous
0 NA
Ethnicity count:
0 African
1 Caucasian
0 EastAsian
0 Hispanic
0 MiddleEastern
0 SouthAsian
0 NA

Public Available Gender Phenotype Ethnicity GT DP GQ FILTER
Yes M amyotrophic lateral sclerosis Caucasian HET 53 99 PASS