Genomic variant #0000016449

Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.15538697C>T
DNA change (hg38) g.15537074C>T
Published as -
ISCN -
DB-ID CC2D2A_000007 See all 2 reported entries
Variant remarks variant creates new donor splice site; second most common Finnish MKS mutation: 11 Finnish MKS6 families (hom); also in European MKS6 patients
Reference PubMed: Tallila al. 2008
ClinVar ID -
dbSNP ID rs116358011
Origin SUMMARY record
Segregation yes
Frequency 3/575 FIN (het)
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 +/+ 18 c.1762C>T - r.1761_1764del p.Gln588Glyfs*29