Variant: 12-64875638-C-G



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64875638-C-G missense_variant TBK1 1 9094 1.0996261E-4 4547 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant TBK1 ENST00000331710 c.829C>G p.Leu277Val probably
upstream_gene_variant TBK1 ENST00000536906 n.-2549C>G NA NA
upstream_gene_variant TBK1 ENST00000545025 n.-2183C>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 1.23877E-5 NA NA NA NA


Carrier

Gender count:
1 Male
0 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 M amyotrophic lateral sclerosis Caucasian HET 119 99 PASS