Variant: 12-64878159-C-T



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64878159-C-T stop_gained TBK1 1 9130 1.0952903E-4 4565 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
stop_gained TBK1 ENST00000331710 c.1069C>T p.Arg357* NA
non_coding_transcript_exon_variant TBK1 ENST00000545025 n.339C>T NA NA
upstream_gene_variant TBK1 ENST00000536906 n.-28C>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 7.96629E-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 135 99 PASS