NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000694395.9
Allele description [Variation Report for NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu)]
NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu)
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
-
Rattus norvegicus SRC kinase signaling inhibitor 1 (Srcin1), mRNA
Rattus norvegicus SRC kinase signaling inhibitor 1 (Srcin1), mRNAgi|9507126|ref|NM_019378.1|Nucleotide
-
Mus musculus kelch-like 30 (Klhl30), mRNA
Mus musculus kelch-like 30 (Klhl30), mRNAgi|141802195|ref|NM_027551.2|Nucleotide
-
Gamete Intrafallopian Transfer
Gamete Intrafallopian TransferA technique that came into use in the mid-1980's for assisted conception in infertile women with normal fallopian tubes. The protocol consists of hormonal stimulation of the o...<br/>Year introduced: 1989MeSH
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024