Variant: 12-64878118-C-G



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64878118-C-G missense_variant TBK1 2 9078 2.2031284E-4 4539 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant TBK1 ENST00000331710 c.1028C>G p.Thr343Ser probably
non_coding_transcript_exon_variant TBK1 ENST00000545025 n.298C>G NA NA
upstream_gene_variant TBK1 ENST00000536906 n.-69C>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
1.77696E-5 NA 1.19877E-5 NA NA NA NA


Carrier

Gender count:
2 Male
0 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 M amyotrophic lateral sclerosis Caucasian HET 50 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 33 99 PASS