Variant #0000087485 (NC_000004.11:g.57777540C>T, REST(NM_005612.4):c.736C>T)

Individual ID 00057233
Chromosome 4
Allele Maternal (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.57777540C>T
DNA change (hg38) g.56911374C>T
Published as -
ISCN -
DB-ID REST_000004
Variant remarks -
Reference PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
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.736C>T r.(?) p.(Arg246*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000057195 DNA SEQ - - REST 1 Tamara Hettipathirana