NM_000138.5(FBN1):c.7454-1G>C AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 7, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001386073.7
Allele description [Variation Report for NM_000138.5(FBN1):c.7454-1G>C]
NM_000138.5(FBN1):c.7454-1G>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
-
Karyopherin alpha 3 (importin alpha 4) [Homo sapiens]
Karyopherin alpha 3 (importin alpha 4) [Homo sapiens]gi|16878323|gb|AAH17355.1|Protein
-
Mus musculus oxysterol binding protein, mRNA (cDNA clone IMAGE:2651122), partial...
Mus musculus oxysterol binding protein, mRNA (cDNA clone IMAGE:2651122), partial cdsgi|13097404|gb|BC003443.1|Nucleotide
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Gm33910 predicted gene, 33910 [Mus musculus]
Gm33910 predicted gene, 33910 [Mus musculus]Gene ID:102636992Gene
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102636992[uid] AND (alive[prop]) (1)
Gene
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uncharacterized protein LOC101213787 isoform X1 [Cucumis sativus]
uncharacterized protein LOC101213787 isoform X1 [Cucumis sativus]gi|449463198|ref|XP_004149321.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024