NM_000138.5(FBN1):c.5817G>A (p.Gly1939=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001505044.7
Allele description [Variation Report for NM_000138.5(FBN1):c.5817G>A (p.Gly1939=)]
NM_000138.5(FBN1):c.5817G>A (p.Gly1939=)
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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zx89b06.s1 Soares ovary tumor NbHOT Homo sapiens cDNA clone IMAGE:810899 3' similar to gb:X54941 CYCLIN-DEPENDENT KINASES REGULATORY SUBUNIT 1 (HUMAN), mRNA sequencegi|2184199|gnl|dbEST|1103814|gb|AA4 .1|Nucleotide
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zt22b04.s1 Soares ovary tumor NbHOT Homo sapiens cDNA clone IMAGE:713839 3', mRNA sequencegi|1927384|gnl|dbEST|924814|gb|AA28 1|Nucleotide
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zr35b11.s1 Soares_NhHMPu_S1 Homo sapiens cDNA clone IMAGE:665373 3', mRNA sequen...
zr35b11.s1 Soares_NhHMPu_S1 Homo sapiens cDNA clone IMAGE:665373 3', mRNA sequencegi|1784748|gnl|dbEST|834120|gb|AA19 1|Nucleotide
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Last Updated: Sep 29, 2024