Variant: 12-64875725-C-A



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64875725-C-A missense_variant TBK1 3 9080 3.3039646E-4 4540 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant TBK1 ENST00000331710 c.916C>A p.Leu306Ile probably
upstream_gene_variant TBK1 ENST00000536906 n.-2462C>A NA NA
upstream_gene_variant TBK1 ENST00000545025 n.-2096C>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
2.97668E-4 NA 3.14073E-4 NA NA NA NA


Carrier

Gender count:
2 Male
1 Female
0 Ambiguous
0 NA
Ethnicity count:
0 African
1 Caucasian
0 EastAsian
0 Hispanic
2 MiddleEastern
0 SouthAsian
0 NA

Public Available Gender Phenotype Ethnicity GT DP GQ FILTER
Yes M amyotrophic lateral sclerosis MiddleEastern HET 35 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 265 99 PASS
Yes F amyotrophic lateral sclerosis MiddleEastern HET 15 99 PASS