Variant: 12-64879719-TTG-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64879719-TTG-T p.Cys423fs frameshift TBK1 1 8986 1.1128422E-4 4493 0 4.44381E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
frameshift TBK1 ENST00000331710 c.1268_1269delGT p.Cys423fs NA
downstream_gene TBK1 ENST00000545025 n.*454_*455delTG NA NA
non_coding_transcript_exon TBK1 ENST00000536906 n.584_585delGT NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 4.44381E-6 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 82 0.5487805 99 PASS