Variant: 12-64875725-C-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64875725-C-A p.Leu306Ile missense TBK1 3 9148 3.2794054E-4 4574 0 3.14073E-4


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.916C>A p.Leu306Ile probably
upstream_gene TBK1 ENST00000536906 n.-2462C>A NA NA
upstream_gene TBK1 ENST00000545025 n.-2096C>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
2.97668E-4 NA 3.14073E-4 6.37105E-5 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 MiddleEastern HET 35 0.4857143 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 265 0.58113205 99 PASS
Yes F amyotrophic lateral sclerosis MiddleEastern HET 15 0.6 99 PASS