Genomic variant #0000016460

Chromosome 4
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.15581794_15581797del
DNA change (hg38) g.15580171_15580174del
Published as 3975_3975+3delAGTA
ISCN -
DB-ID CC2D2A_000018
Variant remarks 1 European MKS6 family (com-het)
Reference PubMed: Tallila al. 2009
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne Polvi




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CC2D2A NM_001080522.2 +/+ 33_33i c.3975_3975+3del - r.spl p.?