NM_002230.4(JUP):c.631A>C (p.Asn211His) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 5, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002598820.2
Allele description [Variation Report for NM_002230.4(JUP):c.631A>C (p.Asn211His)]
NM_002230.4(JUP):c.631A>C (p.Asn211His)
Condition(s)
- Name:
- Naxos disease (NXD)
- Synonyms:
- KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY; PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR; WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011017; MedGen: C1832600; Orphanet: 34217; OMIM: 601214
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Microbe sample from Caballeronia sp. INML1
Microbe sample from Caballeronia sp. INML1biosample
-
txid2921760[Organism:noexp] (1)
BioSample
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024