Variant #0000154365 (NC_000018.9:g.50278709C>A, DCC(NM_005215.3):c.377C>A)

Individual ID 00095359
Chromosome 18
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.50278709C>A
DNA change (hg38) g.52752339C>A
Published as -
ISCN -
DB-ID DCC_000005 See all 2 reported entries
Variant remarks {CV:187794}
Reference PubMed: Meneret 2014
ClinVar ID -
dbSNP ID -
Origin Germline
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 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 +?/. 2 c.377C>A r.(?) p.(Ser126*) IgC2-1 - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000095758 DNA SEQ;QMPSF Blood Quantitative Multiplex PCR of Short Fluorescent fragments DCC 1 Ashley Marsh