Variant: 12-64882317-T-C



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64882317-T-C missense_variant TBK1 233 9188 0.025359165 4594 4


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant TBK1 ENST00000331710 c.1391T>C p.Val464Ala possibly
downstream_gene_variant TBK1 ENST00000545025 n.*3051T>C NA NA
non_coding_transcript_exon_variant TBK1 ENST00000536906 n.707T>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
0.0162051 NA 0.0134862 NA 0.00252016 0.003125 NA


Carrier

Gender count:
130 Male
97 Female
2 Ambiguous
0 NA
Ethnicity count:
1 African
206 Caucasian
0 EastAsian
1 Hispanic
12 MiddleEastern
0 SouthAsian
9 NA