Variant: 12-64860863-G-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64860863-G-A c.540+1G>A splice_donor TBK1 1 9218 1.084834E-4 4609 0 4.4613E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
splice_donor TBK1 ENST00000331710 c.540+1G>A NA NA
downstream_gene TBK1 ENST00000538890 c.*2668G>A NA NA
downstream_gene TBK1 ENST00000539810 c.*2677G>A NA NA
downstream_gene TBK1 ENST00000540417 c.*2684G>A NA NA
intron TBK1 ENST00000331710 c.540+1G>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 4.4613E-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 31 0.48387095 99 LIKELY