Genomic variant #0000016461

Chromosome 4
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.15589552delG
DNA change (hg38) -
Published as 4179delG (Gly1394fs)
ISCN -
DB-ID CC2D2A_000019
Variant remarks reported as last nt exon 35; 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 +/+ 35 c.4179+1delG - r.spl? p.[(Gly1394Valfs*7, ?)]