NM_000138.5(FBN1):c.1010dup (p.Tyr337Ter) AND Progeroid and marfanoid aspect-lipodystrophy syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001197262.2
Allele description [Variation Report for NM_000138.5(FBN1):c.1010dup (p.Tyr337Ter)]
NM_000138.5(FBN1):c.1010dup (p.Tyr337Ter)
Condition(s)
- Name:
- Progeroid and marfanoid aspect-lipodystrophy syndrome
- Synonyms:
- MARFANOID-PROGEROID SYNDROME; MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME; Marfan lipodystrophy syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0014831; MedGen: C4310796; Orphanet: 300382; OMIM: 616914
-
hypothetical protein CNK01760 [Cryptococcus neoformans var. neoformans JEC21]
hypothetical protein CNK01760 [Cryptococcus neoformans var. neoformans JEC21]gi|58260886|ref|XP_567853.1|Protein
-
EAT1b_2336 [Exiguobacterium sp. AT1b]
EAT1b_2336 [Exiguobacterium sp. AT1b]Gene ID:7870385Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024