Variant: 12-64891515-T-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64891515-T-C p.Leu683Leu synonymous TBK1 2 9234 2.1659087E-4 4617 0 4.98124E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
synonymous TBK1 ENST00000331710 c.2047T>C p.Leu683Leu NA
downstream_gene TBK1 ENST00000541805 n.*1804T>C NA NA
non_coding_transcript_exon TBK1 ENST00000545392 n.222T>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
4.98124E-5 NA 3.27292E-5 3.20307E-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 Caucasian HET 42 0.4047619 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 34 0.32352942 99 LIKELY