Variant #0000726927 (NC_000018.9:g.50432563C>T, DCC(NM_005215.3):c.562C>T)

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.50432563C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID DCC_000081
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_Nijmegen
Database submission license No license selected
Created by VKGL-NL_Nijmegen
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 +?/. - c.562C>T r.(?) p.(Arg188*) - - -