Variant: 12-64882311-CAG-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64882311-CAG-C p.Glu463fs frameshift TBK1 3 9256 3.2411408E-4 4628 0 4.15248E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
frameshift TBK1 ENST00000331710 c.1387_1388delGA p.Glu463fs NA
downstream_gene TBK1 ENST00000545025 n.*3046_*3047delAG NA NA
non_coding_transcript_exon TBK1 ENST00000536906 n.703_704delGA NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 4.15248E-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 189 0.5132275 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 56 0.4642857 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 37 0.6756757 99 PASS