NM_003239.5(TGFB3):c.521T>A (p.Leu174His) AND Arrhythmogenic right ventricular cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 4, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000208388.8
Allele description [Variation Report for NM_003239.5(TGFB3):c.521T>A (p.Leu174His)]
NM_003239.5(TGFB3):c.521T>A (p.Leu174His)
Condition(s)
- Name:
- Arrhythmogenic right ventricular cardiomyopathy (ARVD)
- Synonyms:
- Cardiomyopathy, ARVC; Arrhythmogenic right ventricular dysplasia
- Identifiers:
- MONDO: MONDO:0016587; MeSH: D019571; MedGen: C0349788
-
H.sapiens gene for transforming growth factor-beta 3 (TGF-beta 3) exon 1 (and jo...
H.sapiens gene for transforming growth factor-beta 3 (TGF-beta 3) exon 1 (and joined CDS)gi|37075|emb|X14885.1|Nucleotide
-
H.sapiens gene for transforming growth factor-beta 3 (TGF-beta 3) exon 5
H.sapiens gene for transforming growth factor-beta 3 (TGF-beta 3) exon 5gi|37083|emb|X14889.1|Nucleotide
-
Melanoma, Experimental
Melanoma, ExperimentalExperimentally induced tumor that produces MELANIN in animals to provide a model for studying human MELANOMA.<br/>Year introduced: 1987MeSH
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Last Updated: Aug 25, 2024