NM_000138.5(FBN1):c.4583-8G>C AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002068457.6
Allele description [Variation Report for NM_000138.5(FBN1):c.4583-8G>C]
NM_000138.5(FBN1):c.4583-8G>C
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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Homo sapiens variable charge, X-linked 2, mRNA (cDNA clone MGC:149340 IMAGE:4011...
Homo sapiens variable charge, X-linked 2, mRNA (cDNA clone MGC:149340 IMAGE:40114437), complete cdsgi|126632180|gb|BC134350.1|Nucleotide
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BioProject Links for GEO DataSets (Select 161) (0)
BioProject
-
tuberin isoform 19 [Homo sapiens]
tuberin isoform 19 [Homo sapiens]gi|2240436663|ref|NP_001393600.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024