Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
ClinVar accession
|
| gptkbp:alleleID |
12634
|
| gptkbp:aminoAcidChange |
c.1521_1523delCTT
p.Phe508del |
| gptkbp:associatedWith |
cystic fibrosis
|
| gptkbp:condition |
gptkb:Cystic_fibrosis
|
| gptkbp:consequence |
missense variant
|
| gptkbp:Entrez_Gene_ID |
gptkb:rs113993960
|
| gptkbp:gene |
gptkb:CFTR
|
| https://www.w3.org/2000/01/rdf-schema#label |
RCV000018084
|
| gptkbp:lastEvaluated |
2022-03-01
|
| gptkbp:locatedOnChromosome |
7
7q31.2 |
| gptkbp:referenceAssembly |
gptkb:GRCh38
|
| gptkbp:reviewStatus |
criteria provided, multiple submitters, no conflicts
|
| gptkbp:significance |
Pathogenic
|
| gptkbp:submitterCount |
20
|
| gptkbp:variantType |
single nucleotide variant
|
| gptkbp:bfsParent |
gptkb:rs429358
|
| gptkbp:bfsLayer |
7
|