NM_000492.4(CFTR):c.950T>C (p.Val317Ala) AND CFTR-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001834853.1
Allele description [Variation Report for NM_000492.4(CFTR):c.950T>C (p.Val317Ala)]
NM_000492.4(CFTR):c.950T>C (p.Val317Ala)
Condition(s)
- Name:
- CFTR-related disorder (CFTR-RD)
- Synonyms:
- CFTR-related disorders; CFTR-related condition
- Identifiers:
-
putative trehalose synthase [Streptomyces coelicolor A3(2)]
putative trehalose synthase [Streptomyces coelicolor A3(2)]gi|6941984|emb|CAB72418.1|Protein
-
glycosidase [Klebsiella sp. LY]
glycosidase [Klebsiella sp. LY]gi|1552071580|gnl|PRJNA392024|CE636 5|gb|AZZ16965.1|Protein
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Last Updated: Sep 16, 2024