NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) AND Marfan syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000287055.6
Allele description [Variation Report for NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=)]
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=)
Condition(s)
- Name:
- Marfan syndrome (MFS)
- Synonyms:
- MARFAN SYNDROME, TYPE I; Marfan syndrome type 1; Marfan's syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007947; MedGen: C0024796; Orphanet: 284963; Orphanet: 558; OMIM: 154700
-
Boussingaultia gracilis (1296)
Taxonomy
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024