Genomic variant #0000052261

Individual ID 00028922
Chromosome 4
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.15569299delG
DNA change (hg38) g.15567676delG
Published as -
ISCN -
DB-ID CC2D2A_000026
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Sanne Savelberg




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CC2D2A NM_001080522.2 +?/. 26i c.3289-1delG - r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000028954 DNA SEQ-NG-S blood - CC2D2A 2 Sanne Savelberg