Variant #0000086641 (NC_000004.11:g.57777635_57777636del, REST(NM_005612.4):c.831_832del)

Individual ID 00056439
Chromosome 4
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.57777635_57777636del
DNA change (hg38) g.56911469_56911470del
Published as 831_832delAT
ISCN -
DB-ID REST_000002 See all 3 reported entries
Variant remarks -
Reference PubMed: Mahamdallie 2015, Journal: Mahamdallie 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/519 WT cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Tamara Hettipathirana
Database submission license No license selected
Created by Tamara Hettipathirana
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
REST NM_005612.4 +/. 2 c.831_832del r.(?) p.(Cys278Trpfs*18)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000056399 DNA SEQ - - REST 1 Tamara Hettipathirana