Variant: 12-64875641-ACCCCTGTT-A



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64875641-ACCCCTGTT-A frameshift_variant TBK1 1 9096 1.0993843E-4 4548 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
frameshift_variant TBK1 ENST00000331710 c.834_841delCCCTGTTC p.Pro279fs NA
upstream_gene_variant TBK1 ENST00000536906 n.-2545_-2538delCCCCTGTT NA NA
upstream_gene_variant TBK1 ENST00000545025 n.-2179_-2172delCCCCTGTT NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 4.12909E-6 NA NA NA NA


Carrier

Gender count:
0 Male
1 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 F amyotrophic lateral sclerosis Caucasian HET 152 99 PASS