Variant: 12-64878118-C-G



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64878118-C-G p.Thr343Ser missense TBK1 2 9146 2.1867483E-4 4573 0 1.77696E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.1028C>G p.Thr343Ser probably
non_coding_transcript_exon TBK1 ENST00000545025 n.298C>G NA NA
upstream_gene TBK1 ENST00000536906 n.-69C>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
1.77696E-5 NA 1.19877E-5 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 50 0.42 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 33 0.4848485 99 PASS