NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr) AND Familial Mediterranean fever, autosomal dominant
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Feb 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003126467.1
Allele description [Variation Report for NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)]
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)
Condition(s)
-
Patent ductus arteriosus after birth at term
Patent ductus arteriosus after birth at termMedGen
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See more...Assertion and evidence details
Last Updated: May 7, 2024