Genomic variant #0000345264

Chromosome 4
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.15513014_15513016del
DNA change (hg38) -
Published as CC2D2A:NM_001080522.2:c.685_687del (Glu229del)
ISCN -
DB-ID CC2D2A_000002 See all 6 reported entries
Variant remarks VKGL data sharing initiative Nederland; correct HGVS to be checked
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Nijmegen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CC2D2A NM_001080522.2 -?/. - c.685_687del likely benign r.(?) p.(Glu229del)