Variant: 12-64879776-G-A



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64879776-G-A missense_variant TBK1 1 8846 1.1304545E-4 4423 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant TBK1 ENST00000331710 c.1319G>A p.Arg440Gln probably
downstream_gene_variant TBK1 ENST00000545025 n.*510G>A NA NA
non_coding_transcript_exon_variant TBK1 ENST00000536906 n.635G>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
8.27075E-6 NA 1.30591E-5 NA NA NA NA


Carrier

Gender count:
0 Male
1 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 F amyotrophic lateral sclerosis Caucasian HET 26 99 PASS