NM_000138.5(FBN1):c.4204T>G (p.Cys1402Gly) AND Marfan syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002246032.1
Allele description [Variation Report for NM_000138.5(FBN1):c.4204T>G (p.Cys1402Gly)]
NM_000138.5(FBN1):c.4204T>G (p.Cys1402Gly)
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
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P-selectin isoform X1 [Homo sapiens]
P-selectin isoform X1 [Homo sapiens]gi|2462512388|ref|XP_054194122.1|Protein
-
P-selectin isoform X2 [Homo sapiens]
P-selectin isoform X2 [Homo sapiens]gi|2462512394|ref|XP_054194125.1|Protein
-
Mus musculus zinc finger, AN1-type domain 1 (Zfand1), transcript variant 6, mRNA
Mus musculus zinc finger, AN1-type domain 1 (Zfand1), transcript variant 6, mRNAgi|2171723341|ref|NM_001399061.1|Nucleotide
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RecName: Full=Small ribosomal subunit protein uS15; AltName: Full=30S ribosomal ...
RecName: Full=Small ribosomal subunit protein uS15; AltName: Full=30S ribosomal protein S15gi|81692427|sp|Q6A7P5.1|RS15_CUTAKProtein
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023