Variant: 12-64891516-T-C



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64891516-T-C missense_variant TBK1 2 9206 2.1724962E-4 4603 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant TBK1 ENST00000331710 c.2048T>C p.Leu683Ser probably
downstream_gene_variant TBK1 ENST00000541805 n.*1805T>C NA NA
non_coding_transcript_exon_variant TBK1 ENST00000545392 n.223T>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 4.08958E-6 NA NA NA NA


Carrier

Gender count:
2 Male
0 Female
0 Ambiguous
0 NA
Ethnicity count:
0 African
2 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 21 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 137 99 PASS