NM_000492.4(CFTR):c.66A>G (p.Pro22=) AND CFTR-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 15, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001833602.8
Allele description [Variation Report for NM_000492.4(CFTR):c.66A>G (p.Pro22=)]
NM_000492.4(CFTR):c.66A>G (p.Pro22=)
Condition(s)
- Name:
- CFTR-related disorder (CFTR-RD)
- Synonyms:
- CFTR-related disorders; CFTR-related condition
- Identifiers:
-
Homo sapiens Rho GDP dissociation inhibitor (GDI) alpha (ARHGDIA), transcript va...
Homo sapiens Rho GDP dissociation inhibitor (GDI) alpha (ARHGDIA), transcript variant 3, mRNAgi|297374784|ref|NM_001185078.1|Nucleotide
-
cationic amino acid transporter 2 isoform 2 [Homo sapiens]
cationic amino acid transporter 2 isoform 2 [Homo sapiens]gi|1634229846|ref|NP_001357267.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 1, 2024