Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:SNP
|
| gptkbp:aminoAcidChange |
c.1521_1523delCTT
p.Phe508del |
| gptkbp:associatedWith |
cystic fibrosis
|
| gptkbp:chromosomalPosition |
7q31.2
|
| gptkbp:dbSNPID |
gptkb:rs113993960
|
| https://www.w3.org/2000/01/rdf-schema#label |
rs113993960
|
| gptkbp:locatedOnChromosome |
gptkb:CFTR
7 |
| gptkbp:referenceGenome |
gptkb:GRCh38
|
| gptkbp:significance |
pathogenic
|
| gptkbp:bfsParent |
gptkb:CFTR_gene
|
| gptkbp:bfsLayer |
6
|