Genomic variant #0000016451

Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.15559074C>T
DNA change (hg38) g.15557451C>T
Published as -
ISCN -
DB-ID CC2D2A_000009 See all 5 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 +/+ 24 c.2773C>T pathogenic (recessive) r.(2773c>u) p.(Arg925*)