Variant: 12-64860760-G-A



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64860760-G-A synonymous_variant TBK1 1 9196 1.08742934E-4 4598 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
synonymous_variant TBK1 ENST00000331710 c.438G>A p.Gly146Gly NA
downstream_gene_variant TBK1 ENST00000538890 c.*2565G>A NA NA
downstream_gene_variant TBK1 ENST00000539810 c.*2574G>A NA NA
downstream_gene_variant TBK1 ENST00000540417 c.*2581G>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
8.23818E-6 NA 7.97983E-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 49 99 PASS