NM_000138.5(FBN1):c.4172G>A (p.Cys1391Tyr) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 29, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000684935.6
Allele description [Variation Report for NM_000138.5(FBN1):c.4172G>A (p.Cys1391Tyr)]
NM_000138.5(FBN1):c.4172G>A (p.Cys1391Tyr)
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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CASP8-associated protein 2 isoform X1 [Homo sapiens]
CASP8-associated protein 2 isoform X1 [Homo sapiens]gi|2462611653|ref|XP_054212894.1|Protein
-
CASP8-associated protein 2 isoform X6 [Homo sapiens]
CASP8-associated protein 2 isoform X6 [Homo sapiens]gi|2462611629|ref|XP_054212882.1|Protein
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PREDICTED: Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript va...
PREDICTED: Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant X35, mRNAgi|2462611656|ref|XM_054356921.1|Nucleotide
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Homo sapiens ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast), mRNA (cD...
Homo sapiens ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast), mRNA (cDNA clone MGC:12555 IMAGE:4137664), complete cdsgi|15559236|gb|BC013973.1|Nucleotide
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PREDICTED: Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript va...
PREDICTED: Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant X24, mRNAgi|2462611634|ref|XM_054356910.1|Nucleotide
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Last Updated: Mar 5, 2024