NM_000243.3(MEFV):c.2141C>T (p.Pro714Leu) AND Acute febrile neutrophilic dermatosis
- Germline classification:
- Likely 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:
- RCV003126641.1
Allele description [Variation Report for NM_000243.3(MEFV):c.2141C>T (p.Pro714Leu)]
NM_000243.3(MEFV):c.2141C>T (p.Pro714Leu)
Condition(s)
-
Neurological finding
Neurological findingMedGen
-
C0422837[conceptid] (1)
MedGen
-
protein kinase Npk isoform X1 [Megalobrama amblycephala]
protein kinase Npk isoform X1 [Megalobrama amblycephala]gi|2238878222|ref|XP_048056265.1|Protein
-
Posterior fossa cyst
Posterior fossa cystMedGen
-
Headache due to external compression of head
Headache due to external compression of headMedGen
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See more...Assertion and evidence details
Last Updated: Jul 29, 2023