Variant: 12-64873860-T-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64873860-T-C p.Ile257Thr missense TBK1 1 9190 1.08813925E-4 4595 0 3.98807E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.770T>C p.Ile257Thr probably
upstream_gene TBK1 ENST00000536906 n.-4327T>C NA NA
upstream_gene TBK1 ENST00000545025 n.-3961T>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 3.98807E-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 82 0.5 99 PASS