NM_000138.5(FBN1):c.8130C>T (p.Leu2710=) AND Marfan syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003995729.2
Allele description [Variation Report for NM_000138.5(FBN1):c.8130C>T (p.Leu2710=)]
NM_000138.5(FBN1):c.8130C>T (p.Leu2710=)
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
-
endoplasmic reticulum-Golgi intermediate compartment protein 3 [Magallana gigas]
endoplasmic reticulum-Golgi intermediate compartment protein 3 [Magallana gigas]gi|2751274343|ref|XP_011434519.2|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 26, 2024