Variant: 12-64868152-G-A



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64868152-G-A missense_variant TBK1 2 9160 2.1834062E-4 4580 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant TBK1 ENST00000331710 c.683G>A p.Arg228His probably


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
8.2409E-6 NA 1.60898E-5 NA NA NA NA


Carrier

Gender count:
1 Male
1 Female
0 Ambiguous
0 NA
Ethnicity count:
0 African
2 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 98 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 147 99 PASS