Variant: 12-64854098-A-G



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64854098-A-G missense_variant TBK1 1 9176 1.0897995E-4 4588 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant TBK1 ENST00000331710 c.217A>G p.Ile73Val benign
missense_variant TBK1 ENST00000538890 c.217A>G p.Ile73Val benign
missense_variant TBK1 ENST00000539810 c.61A>G p.Ile21Val benign
missense_variant TBK1 ENST00000540417 c.217A>G p.Ile73Val benign


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
4.18725E-5 NA 4.89041E-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 140 99 PASS