NM_000138.5(FBN1):c.8500A>G (p.Thr2834Ala) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001914746.3
Allele description [Variation Report for NM_000138.5(FBN1):c.8500A>G (p.Thr2834Ala)]
NM_000138.5(FBN1):c.8500A>G (p.Thr2834Ala)
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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uncharacterized protein Dmel_CG12769, isoform B [Drosophila melanogaster]
uncharacterized protein Dmel_CG12769, isoform B [Drosophila melanogaster]gi|24586483|ref|NP_724641.1|Protein
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Mouse DNA sequence from clone RP23-193A16 on chromosome 11, complete sequence
Mouse DNA sequence from clone RP23-193A16 on chromosome 11, complete sequencegi|20068635|emb|AL645851.8|Nucleotide
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RecName: Full=Transmembrane protein 14C
RecName: Full=Transmembrane protein 14Cgi|27734404|sp|Q9CQN6.1|TM14C_MOUSEProtein
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See more...Assertion and evidence details
Last Updated: May 7, 2024