Variant #0000154394 (NC_000018.9:g.50589830G>A, DCC(NM_005215.3):c.1140+1G>A)

Individual ID 00095387
Chromosome 18
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.50589830G>A
DNA change (hg38) g.53063460G>A
Published as -
ISCN -
DB-ID DCC_000004 See all 19 reported entries
Variant remarks not found in 760 unrelated controls; aberrant transcript identified using RT-PCR of cDNA; {CV:187797}
Reference PubMed: Srour 2010, OMIM:var0001
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
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 No license selected
Created by Ashley Marsh
Options




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.986_1140del p.Val329Glyfs*15 IgC2-3-IgC2-4 linker - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000095786 DNA;RNA arrayCNV;RT-PCR;SEQ Blood - DCC 1 Ashley Marsh