Variant: 12-64878206-A-G



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64878206-A-G p.Lys372Lys synonymous TBK1 1 9256 1.0803803E-4 4628 0 2.47926E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
synonymous TBK1 ENST00000331710 c.1116A>G p.Lys372Lys NA
non_coding_transcript_exon TBK1 ENST00000536906 n.20A>G NA NA
non_coding_transcript_exon 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:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes F amyotrophic lateral sclerosis Caucasian HET 53 0.3773585 99 PASS