NM_000492.4(CFTR):c.4142A>G (p.Tyr1381Cys) AND CFTR-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 20, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001833592.1
Allele description [Variation Report for NM_000492.4(CFTR):c.4142A>G (p.Tyr1381Cys)]
NM_000492.4(CFTR):c.4142A>G (p.Tyr1381Cys)
Condition(s)
- Name:
- CFTR-related disorder (CFTR-RD)
- Synonyms:
- CFTR-related disorders; CFTR-related condition
- Identifiers:
-
Chronic peri-aortitis
Chronic peri-aortitisMedGen
-
C0031022[conceptid] (1)
MedGen
-
Cystadenoma
CystadenomaMedGen
-
C0010633[conceptid] (1)
MedGen
-
Anus cancer
Anus cancerMedGen
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Last Updated: Sep 29, 2024