NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001377643.11
Allele description [Variation Report for NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg)]
NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg)
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
-
Tssr19457 AND (alive[prop]) (0)
Gene
-
Rattus norvegicus strain BN chromosome 18 CRA_213000034363124, whole genome shot...
Rattus norvegicus strain BN chromosome 18 CRA_213000034363124, whole genome shotgun sequencegi|70507292|gb|AAHX01096502.1||gnl| AHX|CRA_213000034363124Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 16, 2024