Variant: 12-64891516-T-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64891516-T-C p.Leu683Ser missense TBK1 2 9270 2.1574974E-4 4635 0 4.08958E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.2048T>C p.Leu683Ser probably
downstream_gene TBK1 ENST00000541805 n.*1805T>C NA NA
non_coding_transcript_exon TBK1 ENST00000545392 n.223T>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 4.08958E-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 21 0.42857143 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 137 0.40145984 99 PASS