NM_000138.5(FBN1):c.4149_4154del (p.Met1384_Gly1385del) AND Marfan syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003110176.3
Allele description [Variation Report for NM_000138.5(FBN1):c.4149_4154del (p.Met1384_Gly1385del)]
NM_000138.5(FBN1):c.4149_4154del (p.Met1384_Gly1385del)
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 cDNA FLJ54154 complete cds, highly similar to EH-domain-containing ...
Homo sapiens cDNA FLJ54154 complete cds, highly similar to EH-domain-containing protein 2gi|194373822|dbj|AK300512.1|Nucleotide
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3155720[uid] (1)
Taxonomy
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Sinibrama melrosei voucher LIHNHB3 cytochrome oxidase subunit 1 (COI) gene, part...
Sinibrama melrosei voucher LIHNHB3 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrialgi|2274456201|gnl|uoguelph|CUBAR553 OI-5P|gb|MZ403655.1|Nucleotide
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Homo sapiens Brox mRNA for Bro1-domain-containing protein, complete cds
Homo sapiens Brox mRNA for Bro1-domain-containing protein, complete cdsgi|140847602|dbj|AB276123.1|Nucleotide
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Amycolatopsis mediterranei strain NPDC052197, whole genome shotgun sequencing pr...
Amycolatopsis mediterranei strain NPDC052197, whole genome shotgun sequencing projectgi|2767012512|ref|NZ_JBFAVK00000000 Z_JBFAVK010000000Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 11, 2023