Variant: 12-64889529-A-C



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64889529-A-C missense_variant TBK1 1 8634 1.15821174E-4 4317 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant TBK1 ENST00000331710 c.1694A>C p.Gln565Pro probably
non_coding_transcript_exon_variant TBK1 ENST00000541805 n.288A>C NA NA
upstream_gene_variant 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:
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 60 99 PASS