Variant: 12-64860863-G-A



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64860863-G-A splice_donor_variant TBK1 1 9150 1.0928962E-4 4575 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
splice_donor_variant TBK1 ENST00000331710 c.540+1G>A NA NA
downstream_gene_variant TBK1 ENST00000538890 c.*2668G>A NA NA
downstream_gene_variant TBK1 ENST00000539810 c.*2677G>A NA NA
downstream_gene_variant TBK1 ENST00000540417 c.*2684G>A NA NA
intron_variant TBK1 ENST00000331710 c.540+1G>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 4.4613E-6 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 31 99 LIKELY