NM_003239.5(TGFB3):c.68C>G (p.Ser23Cys) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002378050.2
Allele description [Variation Report for NM_003239.5(TGFB3):c.68C>G (p.Ser23Cys)]
NM_003239.5(TGFB3):c.68C>G (p.Ser23Cys)
Condition(s)
-
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
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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: May 1, 2024