Variant: 12-64860723-G-A



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64860723-G-A missense_variant TBK1 1 9156 1.09218E-4 4578 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant TBK1 ENST00000331710 c.401G>A p.Arg134His probably
downstream_gene_variant TBK1 ENST00000538890 c.*2528G>A NA NA
downstream_gene_variant TBK1 ENST00000539810 c.*2537G>A NA NA
downstream_gene_variant TBK1 ENST00000540417 c.*2544G>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 1.20382E-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 62 99 PASS