Variant #0000058465 (NC_000006.11:g.24357857_24357858del, DCDC2(NM_016356.3):c.123_124del)

Individual ID 00032321
Chromosome 6
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.24357857_24357858del
DNA change (hg38) g.24357629_24357630del
Published as 123_124delGT
ISCN -
DB-ID DCDC2_000002
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) Variant not found in online data sets
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 +/. 1 c.123_124del r.(?) p.(Ser42Glnfs*72)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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