NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp) AND Marfan syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Dec 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001839446.11
Allele description [Variation Report for NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp)]
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp)
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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Ladigesocypris ghigii voucher MNCN AT5233 cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrialgi|307090522|gb|HM560269.1|Nucleotide
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Ladigesocypris ghigii isolate Ex33G4 cytochrome oxidase subunit I gene, partial ...
Ladigesocypris ghigii isolate Ex33G4 cytochrome oxidase subunit I gene, partial cds; mitochondrialgi|610492273|gb|KJ553683.1|Nucleotide
-
PREDICTED: neutrophil cytosol factor 2 isoform X1 [Bos mutus]
PREDICTED: neutrophil cytosol factor 2 isoform X1 [Bos mutus]gi|942047464|ref|XP_014332873.1|Protein
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Last Updated: Aug 25, 2024