Genomic variant #0000130278

Individual ID 00081080
Chromosome 4
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.15512979del
DNA change (hg38) g.15511356del
Published as -
ISCN -
DB-ID CC2D2A_000031
Variant remarks -
Reference Trujillano et al., submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Daniel Trujillano




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CC2D2A NM_001080522.2 +?/. - c.650del ACMG 4 r.(?) p.(Gly217Glufs*41)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081192 DNA SEQ;SEQ-NG - - CC2D2A 1 Daniel Trujillano