NM_000138.5(FBN1):c.4251T>C (p.Asn1417=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001439536.7
Allele description [Variation Report for NM_000138.5(FBN1):c.4251T>C (p.Asn1417=)]
NM_000138.5(FBN1):c.4251T>C (p.Asn1417=)
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
-
BX283039 Soares infant brain 1NIB Homo sapiens cDNA clone IMAGp998K17150; IMAGE:...
BX283039 Soares infant brain 1NIB Homo sapiens cDNA clone IMAGp998K17150; IMAGE:30873 3', mRNA sequencegi|28613238|gnl|dbEST|17022985|emb| 039.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024