Variant #0000719942 (NC_000004.11:g.57797533C>G, REST(NM_005612.4):c.2509C>G)

Chromosome 4
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.57797533C>G
DNA change (hg38) -
Published as REST(NM_001363453.1):c.2509C>G (p.L837V)
ISCN -
DB-ID REST_000025
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
REST NM_005612.4 ?/. - c.2509C>G r.(?) p.(Leu837Val)