Variant: 12-64875735-T-C



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64875735-T-C missense_variant TBK1 1 9110 1.09769484E-4 4555 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant TBK1 ENST00000331710 c.926T>C p.Met309Thr benign
upstream_gene_variant TBK1 ENST00000536906 n.-2452T>C NA NA
upstream_gene_variant TBK1 ENST00000545025 n.-2086T>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 4.04773E-6 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 113 99 PASS