Variant: 12-64882311-CAG-C



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64882311-CAG-C frameshift_variant TBK1 3 9188 3.2651285E-4 4594 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
frameshift_variant TBK1 ENST00000331710 c.1387_1388delGA p.Glu463fs NA
downstream_gene_variant TBK1 ENST00000545025 n.*3046_*3047delAG NA NA
non_coding_transcript_exon_variant 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:
1 Male
2 Female
0 Ambiguous
0 NA
Ethnicity count:
0 African
3 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 189 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 56 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 37 99 PASS