NM_000492.4(CFTR):c.1766+2T>C AND Cystic fibrosis
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- Last evaluated:
- Apr 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000674906.3
Allele description [Variation Report for NM_000492.4(CFTR):c.1766+2T>C]
NM_000492.4(CFTR):c.1766+2T>C
Condition(s)
-
BDNF/NT-3 growth factors receptor isoform b precursor [Homo sapiens]
BDNF/NT-3 growth factors receptor isoform b precursor [Homo sapiens]gi|1610576493|ref|NP_001356473.1|Protein
-
PREDICTED: Homo sapiens SLAM family member 7 (SLAMF7), transcript variant X2, mR...
PREDICTED: Homo sapiens SLAM family member 7 (SLAMF7), transcript variant X2, mRNAgi|767910043|ref|XM_011509829.1|Nucleotide
-
Syndromic dyslipidemia
Syndromic dyslipidemiaMedGen
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See more...Assertion and evidence details
Last Updated: Jun 17, 2024