NM_000492.4(CFTR):c.1765A>C (p.Ser589Arg) AND CFTR-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 28, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001828736.1
Allele description [Variation Report for NM_000492.4(CFTR):c.1765A>C (p.Ser589Arg)]
NM_000492.4(CFTR):c.1765A>C (p.Ser589Arg)
Condition(s)
- Name:
- CFTR-related disorder (CFTR-RD)
- Synonyms:
- CFTR-related disorders; CFTR-related condition
- Identifiers:
-
RecName: Full=Desmoglein-2; AltName: Full=Cadherin family member 5; AltName: Ful...
RecName: Full=Desmoglein-2; AltName: Full=Cadherin family member 5; AltName: Full=HDGC; Flags: Precursorgi|148876773|sp|Q14126.2|DSG2_HUMANProtein
-
Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA
Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNAgi|224809309|ref|NM_005682.5|Nucleotide
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Last Updated: Sep 29, 2024