Variant: 12-64879254-T-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64879254-T-C p.His403His synonymous TBK1 1 8650 1.15606934E-4 4325 0 4.34805E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
synonymous TBK1 ENST00000331710 c.1209T>C p.His403His NA
non_coding_transcript_exon TBK1 ENST00000536906 n.113T>C NA NA
non_coding_transcript_exon 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:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes M amyotrophic lateral sclerosis Caucasian HET 19 0.2631579 99 PASS