Variant: 12-64878225-A-G



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64878225-A-G p.Ile379Val missense TBK1 2 9244 2.1635655E-4 4622 0 5.57351E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.1135A>G p.Ile379Val probably
non_coding_transcript_exon TBK1 ENST00000536906 n.39A>G NA NA
non_coding_transcript_exon TBK1 ENST00000545025 n.405A>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
8.27089E-6 NA 5.57351E-5 3.1839E-5 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 40 0.5 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 29 0.55172414 99 PASS