Variant: 12-64879254-T-C



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64879254-T-C synonymous_variant TBK1 1 8582 1.16522955E-4 4291 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
synonymous_variant TBK1 ENST00000331710 c.1209T>C p.His403His NA
non_coding_transcript_exon_variant TBK1 ENST00000536906 n.113T>C NA NA
non_coding_transcript_exon_variant TBK1 ENST00000545025 n.479T>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 4.34805E-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 19 99 PASS