LL1986-0
CFTR gene
Active
Basic Properties
- OID
- 1.3.6.1.4.1.12009.10.1.1157
- Name
- CFTR gene
- Description
- Example mutations for CFTR gene
- LOINCs using this list
- 1
Answer List
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| c.1521_1523delCTT (deltaF508) | LA18306-3 | ||
| c.579+1G>T (711+1G>T) | LA18307-1 | ||
| c.3528delC (3659delC) | LA18308-9 | ||
| c.3744delA (3876delA) | LA18309-7 | ||
| c.1624G>T Common name: G542X | LA22750-6 | ||
| c.1652G>A Common name: G551D | LA22751-4 | ||
| c.3846G>A Common name: W1282X | LA22752-2 | ||
| c.350G>A Common name: R117H | LA22754-8 | ||
| c.3909C>G Common name: N1303K | LA22753-0 | ||
| c.1657C>T Common name: R553X | LA22755-5 |
LOINC terms using this Answer List
| 78382-9 | CFTR gene mutations found [Identifier] in Blood or Tissue by MS.MALDI-TOF Nominal |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LL1986-0 - ValueSet definition
- https:
//fhir.loinc.org/ValueSet/?url=http: //loinc.org/vs/LL1986-0 - ValueSet expansion
- https:
//fhir.loinc.org/ValueSet/$expand?url=http: //loinc.org/vs/LL1986-0
LOINC Copyright
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