NM_000138.5(FBN1):c.6890C>G (p.Thr2297Arg) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002876000.3
Allele description [Variation Report for NM_000138.5(FBN1):c.6890C>G (p.Thr2297Arg)]
NM_000138.5(FBN1):c.6890C>G (p.Thr2297Arg)
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
-
Mus musculus expressed sequence AU040829, mRNA (cDNA clone MGC:69898 IMAGE:68252...
Mus musculus expressed sequence AU040829, mRNA (cDNA clone MGC:69898 IMAGE:6825221), complete cdsgi|37589507|gb|BC059911.1|Nucleotide
-
Homologene neighbors for GEO Profiles (Select 34483075) (0)
GEO Profiles
-
Homologene neighbors for GEO Profiles (Select 34497841) (0)
GEO Profiles
-
Homologene neighbors for GEO Profiles (Select 55762182) (0)
GEO Profiles
-
Profile neighbors for GEO Profiles (Select 34531269) (199)
GEO Profiles
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024