Variant: 12-64878127-T-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64878127-T-C p.Ile346Thr missense TBK1 1 9146 1.09337416E-4 4573 0 8.73042E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.1037T>C p.Ile346Thr benign
non_coding_transcript_exon TBK1 ENST00000545025 n.307T>C NA NA
upstream_gene 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:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes F amyotrophic lateral sclerosis Caucasian HET 202 0.42574257 99 PASS