Variant: 12-64891810-T-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64891810-T-A p.Ile710Asn missense TBK1 3 9178 3.268686E-4 4589 0 8.42531E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.2129T>A p.Ile710Asn probably
downstream_gene TBK1 ENST00000541805 n.*2099T>A NA NA
downstream_gene TBK1 ENST00000545392 n.*109T>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 8.42531E-6 NA NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes F amyotrophic lateral sclerosis Caucasian HET 31 0.29032257 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 141 0.4539007 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 35 0.4857143 99 PASS