NM_004415.4(DSP):c.3318A>G (p.Glu1106=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002110898.6
Allele description [Variation Report for NM_004415.4(DSP):c.3318A>G (p.Glu1106=)]
NM_004415.4(DSP):c.3318A>G (p.Glu1106=)
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
-
18797[uid] AND (alive[prop]) (1)
Gene
-
Plcb3 phospholipase C, beta 3 [Mus musculus]
Plcb3 phospholipase C, beta 3 [Mus musculus]Gene ID:18797Gene
-
Gene Links for GEO Profiles (Select 49391563) (0)
Gene
-
Related DataSets for GEO Profiles (Select 121681988) (1)
GEO DataSets
-
Sotrastaurin effect on mantle cell lymphoma cell lines
Sotrastaurin effect on mantle cell lymphoma cell linesAccession: GDS5309GEO DataSets
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024