Variant #0000016458 (NC_000004.11:g.15572047_15572048insTG, NM_001080522.2:c.3522_3523insTG (CC2D2A))

Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.15572047_15572048insTG
DNA change (hg38) g.15570424_15570425insTG
Published as -
ISCN -
DB-ID CC2D2A_000016 See all 4 reported entries
Variant remarks 1 French MKS6 family (com-het)
Reference -
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Anne Polvi
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Anne Polvi
Date created 2012-11-15 14:05:58 +01:00 (CET)
Date last edited 2019-02-23 21:32:01 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CC2D2A NM_001080522.2 +/+ 31 c.3522_3523insTG r.(3522_3523insug) p.(His1175Cysfs*13)


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