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.15534887G>A
DNA change (hg38) g.15533263T>A
Published as c.1538T>A (Trp513X)
ISCN -
DB-ID CC2D2A_000006 See all 2 reported entries
Variant remarks 1 French MKS6 family (com-het)
Reference -
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
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.1538G>A pathogenic (recessive) r.(1538g>a) p.(Trp513*)