Variant: 12-64878225-A-G



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64878225-A-G missense_variant TBK1 2 9176 2.179599E-4 4588 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant TBK1 ENST00000331710 c.1135A>G p.Ile379Val probably
non_coding_transcript_exon_variant TBK1 ENST00000536906 n.39A>G NA NA
non_coding_transcript_exon_variant 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 NA NA NA NA


Carrier

Gender count:
1 Male
1 Female
0 Ambiguous
0 NA
Ethnicity count:
0 African
2 Caucasian
0 EastAsian
0 Hispanic
0 MiddleEastern
0 SouthAsian
0 NA

Public Available Gender Phenotype Ethnicity GT DP GQ FILTER
Yes F amyotrophic lateral sclerosis Caucasian HET 40 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 29 99 PASS