Variant: 12-64890997-T-C



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64890997-T-C synonymous_variant TBK1 1 8158 1.2257906E-4 4079 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
synonymous_variant TBK1 ENST00000331710 c.1917T>C p.Asp639Asp NA
downstream_gene_variant TBK1 ENST00000541805 n.*1286T>C NA NA
non_coding_transcript_exon_variant TBK1 ENST00000545392 n.92T>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
1.69655E-5 NA 1.65546E-5 NA NA NA NA


Carrier

Gender count:
1 Male
0 Female
0 Ambiguous
0 NA
Ethnicity count:
1 African
0 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 African HET 25 99 PASS