Variant: 12-64878206-A-G



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64878206-A-G synonymous_variant TBK1 1 9188 1.08837616E-4 4594 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
synonymous_variant TBK1 ENST00000331710 c.1116A>G p.Lys372Lys NA
non_coding_transcript_exon_variant TBK1 ENST00000536906 n.20A>G NA NA
non_coding_transcript_exon_variant TBK1 ENST00000545025 n.386A>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
2.47926E-5 NA 1.98967E-5 NA NA NA NA


Carrier

Gender count:
0 Male
1 Female
0 Ambiguous
0 NA
Ethnicity count:
0 African
1 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 53 99 PASS