NM_002230.4(JUP):c.87C>T (p.Gly29=) AND multiple conditions
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Dec 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001438988.16
Allele description [Variation Report for NM_002230.4(JUP):c.87C>T (p.Gly29=)]
NM_002230.4(JUP):c.87C>T (p.Gly29=)
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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Na+/K+ ATPase alpha subunit, partial [Tirumala septentrionis]
Na+/K+ ATPase alpha subunit, partial [Tirumala septentrionis]gi|507105547|emb|CCW28398.1|Protein
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MSX1 msh homeobox 1 [Homo sapiens]
MSX1 msh homeobox 1 [Homo sapiens]Gene ID:4487Gene
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OMIM Links for Nucleotide (Select 118582283) (2)
OMIM
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024