Variant: 12-64895141-C-T



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64895141-C-T missense_variant TBK1 2 9276 2.1561018E-4 4638 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant TBK1 ENST00000331710 c.2170C>T p.Arg724Cys probably
downstream_gene_variant TBK1 ENST00000545392 n.*3440C>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
9.06185E-5 NA 5.97029E-5 NA NA NA NA


Carrier

Gender count:
1 Male
1 Female
0 Ambiguous
0 NA
Ethnicity count:
1 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 40 99 PASS
Yes M amyotrophic lateral sclerosis African HET 208 99 PASS