NM_000138.5(FBN1):c.8363C>G (p.Thr2788Arg) AND Marfan syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004010175.2
Allele description [Variation Report for NM_000138.5(FBN1):c.8363C>G (p.Thr2788Arg)]
NM_000138.5(FBN1):c.8363C>G (p.Thr2788Arg)
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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yv06d03.s1 Soares fetal liver spleen 1NFLS Homo sapiens cDNA clone IMAGE:241925 ...
yv06d03.s1 Soares fetal liver spleen 1NFLS Homo sapiens cDNA clone IMAGE:241925 3', mRNA sequencegi|1099371|gnl|dbEST|396794|gb|H930Nucleotide
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Lilium lophophorum var. lophophorum isolate G2013013 internal transcribed spacer...
Lilium lophophorum var. lophophorum isolate G2013013 internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequencegi|567322096|gb|KF851103.1|Nucleotide
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Lilium lophophorum var. lophophorum isolate G2013012 internal transcribed spacer...
Lilium lophophorum var. lophophorum isolate G2013012 internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequencegi|567322095|gb|KF851102.1|Nucleotide
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Lilium lophophorum var. lophophorum 132 chloroplast DNA, trnH-psbA intergenic sp...
Lilium lophophorum var. lophophorum 132 chloroplast DNA, trnH-psbA intergenic spacer, partial sequencegi|2699150450|dbj|LC653930.1|Nucleotide
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Synergistes genomosp. C1 16S ribosomal RNA gene, partial sequence
Synergistes genomosp. C1 16S ribosomal RNA gene, partial sequencegi|30908817|gb|AY278615.1|Nucleotide
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Last Updated: May 7, 2024