Genomic variant #0000016452

Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.15565047delG
DNA change (hg38) g.15563424delG
Published as Lys1029fs
ISCN -
DB-ID CC2D2A_000010
Variant remarks 1 European MKS6 family (com-het) and 1 Turkish MKS6 family (hom)
Reference PubMed: Tallila al. 2009, PubMed: Mougou-Zerelli et al. 2009
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
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 +/+ 27 c.3084delG - r.(3084delg) p.(Lys1029Argfs*3)