Variant: 12-64875801-C-T



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64875801-C-T missense_variant+splice_region_variant TBK1 1 8586 1.1646867E-4 4293 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant+splice_region_variant TBK1 ENST00000331710 c.992C>T p.Thr331Ile unknown
missense_variant TBK1 ENST00000331710 c.992C>T p.Thr331Ile possibly
splice_region_variant TBK1 ENST00000331710 c.992C>T p.Thr331Ile unknown
upstream_gene_variant TBK1 ENST00000536906 n.-2386C>T NA NA
upstream_gene_variant TBK1 ENST00000545025 n.-2020C>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
3.23499E-5 NA 2.52706E-5 NA 0.00100705 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 41 99 PASS