NM_000138.5(FBN1):c.4179_4182del (p.Glu1393fs) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003032209.2
Allele description
NM_000138.5(FBN1):c.4179_4182del (p.Glu1393fs)
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
-
ribosomal protein S3 (mitochondrion) [Benincasa hispida]
ribosomal protein S3 (mitochondrion) [Benincasa hispida]gi|2785812340|gb|XDZ84710.1|Protein
-
multiple C2 and transmembrane domain-containing protein 1 isoform X9 [Homo sapie...
multiple C2 and transmembrane domain-containing protein 1 isoform X9 [Homo sapiens]gi|2217357311|ref|XP_047273672.1|Protein
-
PREDICTED: Homo sapiens multiple C2 and transmembrane domain containing 1 (MCTP1...
PREDICTED: Homo sapiens multiple C2 and transmembrane domain containing 1 (MCTP1), transcript variant X1, mRNAgi|2462604316|ref|XM_054353460.1|Nucleotide
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Last Updated: Feb 28, 2024