Variant #0000058466 (NC_000006.11:g.24302274T>C, DCDC2(NM_016356.3):c.349-2A>G)

Individual ID 00032321
Chromosome 6
Allele Paternal (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.24302274T>C
DNA change (hg38) g.24302046T>C
Published as -
ISCN -
DB-ID DCDC2_000003 See all 2 reported entries
Variant remarks -
Reference PubMed: Schueler 2015, Journal: Schueler 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DCDC2 NM_016356.3 +/. 2i c.349-2A>G r.349_425del p.Val117Leufs*54



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000032388 DNA;RNA RT-PCR;SEQ - - DCDC2 2 Johan den Dunnen