NM_002230.4(JUP):c.855G>C (p.Leu285=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001494766.6
Allele description [Variation Report for NM_002230.4(JUP):c.855G>C (p.Leu285=)]
NM_002230.4(JUP):c.855G>C (p.Leu285=)
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
-
caffeic acid ortho-methyltransferase [Pinus radiata]
caffeic acid ortho-methyltransferase [Pinus radiata]gi|4574324|gb|AAD24001.1|AF119225_1Protein
-
AGENCOURT_14993926 NICHD_XGC_Emb5 Xenopus tropicalis cDNA clone IMAGE:6986858 5'...
AGENCOURT_14993926 NICHD_XGC_Emb5 Xenopus tropicalis cDNA clone IMAGE:6986858 5', mRNA sequencegi|33422437|gnl|dbEST|19435503|gb|C 29.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024