Genomic variant #0000016448

Chromosome 4
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.15534886T>A
DNA change (hg38) g.15533263T>A
Published as Trp513X
ISCN -
DB-ID CC2D2A_000006
Variant remarks 1 French MKS6 family (com-het)
Reference PubMed: Mougou-Zerelli et 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 +?/+? 17 c.1537T>A - r.(1537u>a) p.(Trp513Arg)