Variant: 12-64875641-ACCCCTGTT-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64875641-ACCCCTGTT-A p.Pro279fs frameshift TBK1 1 9164 1.0912265E-4 4582 0 4.12909E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
frameshift TBK1 ENST00000331710 c.834_841delCCCTGTTC p.Pro279fs NA
upstream_gene TBK1 ENST00000536906 n.-2545_-2538delCCCCTGTT NA NA
upstream_gene 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:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes F amyotrophic lateral sclerosis Caucasian HET 152 0.46710527 99 PASS