Variant #0000175144 (NC_000018.9:g.50451671G>A, DCC(NM_005215.3):c.916G>A)

Individual ID 00108613
Chromosome 18
Allele Maternal (inferred)
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.50451671G>A
DNA change (hg38) g.52925301G>A
Published as -
ISCN -
DB-ID DCC_000030 See all 2 reported entries
Variant remarks Variant of unknown significance
Reference PubMed: Jamuar et al. 2017
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 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 ?/. 5 c.916G>A r.(?) p.(Gly306Arg) IgC2-3 Probably damaging Not tolerated



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000109080 DNA SEQ-NG Blood - DCC, TUBA1A 2 Ashley Marsh