NM_002230.4(JUP):c.396C>T (p.Asn132=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002163076.6
Allele description [Variation Report for NM_002230.4(JUP):c.396C>T (p.Asn132=)]
NM_002230.4(JUP):c.396C>T (p.Asn132=)
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
-
287395[uid] (1)
Taxonomy
-
pro-neuregulin-1, membrane-bound isoform isoform X8 [Rattus norvegicus]
pro-neuregulin-1, membrane-bound isoform isoform X8 [Rattus norvegicus]gi|2678901876|ref|XP_063131052.1|Protein
-
uncharacterized protein ColSpa_11870 [Colletotrichum spaethianum]
uncharacterized protein ColSpa_11870 [Colletotrichum spaethianum]gi|2272228994|ref|XP_049134039.1|Protein
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JGI_CAAK5493.rev NIH_XGC_tropBrn3 Xenopus tropicalis cDNA clone IMAGE:7656295 3'...
JGI_CAAK5493.rev NIH_XGC_tropBrn3 Xenopus tropicalis cDNA clone IMAGE:7656295 3', mRNA sequencegi|58404700|gnl|dbEST|27519276|gb|C 67.1|Nucleotide
-
Birth Injuries
Birth InjuriesMechanical or anoxic trauma incurred by the infant during labor or delivery.<br/>Year introduced: 1973MeSH
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024