NM_002230.4(JUP):c.1653+12G>A AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002097736.5
Allele description [Variation Report for NM_002230.4(JUP):c.1653+12G>A]
NM_002230.4(JUP):c.1653+12G>A
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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CBXT19600.b1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:9017501 5', m...
CBXT19600.b1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:9017501 5', mRNA sequencegi|133831548|gnl|dbEST|45260142|gb| 182.1|Nucleotide
-
AGENCOURT_78596942 NICHD_XGC_thy Xenopus laevis cDNA clone IMAGE:8550677 3', mRN...
AGENCOURT_78596942 NICHD_XGC_thy Xenopus laevis cDNA clone IMAGE:8550677 3', mRNA sequencegi|95012870|gnl|dbEST|39154913|gb|E 54.1|Nucleotide
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Last Updated: Feb 28, 2024