Variant #0000461217 (NC_000018.9:g.50589830G>A, DCC(NM_005215.3):c.1140+1G>A)

Chromosome 18
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.50589830G>A
DNA change (hg38) g.53063460G>A
Published as -
ISCN -
DB-ID DCC_000004 See all 19 reported entries
Variant remarks RT-PCR: detection of aberrant transcript (LCL mRNA). Immunoblot: identification of truncated mutant protein (COS7 transfected with pcDNA4-DCC mutant). Netrin binding studies: significant Netrin binding reduction (COS7 transfected with pcDNA4-DCC mutant)
Reference PubMed: Srour 2010
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency 0
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Ashley Marsh
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     

Predict/PolyPhen     

Predict/SIFT     
DCC NM_005215.3 +/. 6i c.1140+1G>A r.spl? p.Val329Glyfs*15 - - -