NM_004415.4(DSP):c.7934T>C (p.Ile2645Thr) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001853301.4
Allele description [Variation Report for NM_004415.4(DSP):c.7934T>C (p.Ile2645Thr)]
NM_004415.4(DSP):c.7934T>C (p.Ile2645Thr)
Condition(s)
- Name:
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- Synonyms:
- Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy; Dilated cardiomyopathy with woolly hair and keratoderma; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011581; MedGen: C1854063; Orphanet: 65282; OMIM: 605676
- Name:
- Arrhythmogenic right ventricular dysplasia 8 (ARVD8)
- Synonyms:
- ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; Arrhythmogenic right ventricular cardiomyopathy, type 8; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8
- Identifiers:
- MONDO: MONDO:0011831; MedGen: C1843896; OMIM: 607450
-
Rosales
RosalesAn order of the class MAGNOLIOPSIDA. Its members include some of the most known ornamental and edible plants of temperate zones including roses, apples, cherries, and peaches....<br/>Year introduced: 1998MeSH
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SMOC1 SPARC related modular calcium binding 1 [Homo sapiens]
SMOC1 SPARC related modular calcium binding 1 [Homo sapiens]Gene ID:64093Gene
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Gene Links for GEO Profiles (Select 79265063) (1)
Gene
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Related DataSets for GEO Profiles (Select 79238434) (1)
GEO DataSets
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Late passage LNCaP prostate tumor cells treated with androgen receptor shRNA or ...
Late passage LNCaP prostate tumor cells treated with androgen receptor shRNA or androgen R1881Accession: GDS4113GEO DataSets
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024