Variant: 12-64878127-T-C



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64878127-T-C missense_variant TBK1 1 9078 1.1015642E-4 4539 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant TBK1 ENST00000331710 c.1037T>C p.Ile346Thr benign
non_coding_transcript_exon_variant TBK1 ENST00000545025 n.307T>C NA NA
upstream_gene_variant TBK1 ENST00000536906 n.-60T>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
8.73042E-6 NA 7.98658E-6 NA NA NA NA


Carrier

Gender count:
0 Male
1 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 F amyotrophic lateral sclerosis Caucasian HET 202 99 PASS