NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001852714.6
Allele description [Variation Report for NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter)]
NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter)
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
-
peripheral inner membrane phage-shock protein [Yersinia pseudotuberculosis IP 31...
peripheral inner membrane phage-shock protein [Yersinia pseudotuberculosis IP 31758]gi|153948710|ref|YP_001400764.1|Protein
-
Homo sapiens cDNA FLJ30567 fis, clone BRAWH2005225
Homo sapiens cDNA FLJ30567 fis, clone BRAWH2005225gi|16549789|dbj|AK055129.1|Nucleotide
-
Sclerosis of finger phalanx
Sclerosis of finger phalanxMedGen
-
C4020941[conceptid] (1)
MedGen
-
Tragopogon ucrainicus internal transcribed spacer 1, partial sequence; 5.8S ribo...
Tragopogon ucrainicus internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequencegi|567497952|gb|KF050460.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024