NM_002230.4(JUP):c.1714C>T (p.Arg572Trp) AND multiple conditions
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Oct 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000532535.6
Allele description [Variation Report for NM_002230.4(JUP):c.1714C>T (p.Arg572Trp)]
NM_002230.4(JUP):c.1714C>T (p.Arg572Trp)
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
-
Gene Links for GEO Profiles (Select 125858279) (1)
Gene
-
NKAPD1 NKAP domain containing 1 [Homo sapiens]
NKAPD1 NKAP domain containing 1 [Homo sapiens]Gene ID:55216Gene
-
OMIM Links for GEO Profiles (Select 121723448) (2)
OMIM
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024