NM_000138.5(FBN1):c.4007A>G (p.His1336Arg) AND Marfan syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003999004.2
Allele description [Variation Report for NM_000138.5(FBN1):c.4007A>G (p.His1336Arg)]
NM_000138.5(FBN1):c.4007A>G (p.His1336Arg)
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
-
"Michigan" (12549)
Books
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Persicaria lapathifolia voucher Shmy1 chloroplast, complete genome
Persicaria lapathifolia voucher Shmy1 chloroplast, complete genomegi|2618385134|gb|OR730804.1|Nucleotide
-
Uncultured bacterium clone OTU_8550 16S ribosomal RNA gene, partial sequence
Uncultured bacterium clone OTU_8550 16S ribosomal RNA gene, partial sequencegi|1496546188|gb|MH532198.1|Nucleotide
-
Uncultured bacterium clone OTU_7168 16S ribosomal RNA gene, partial sequence
Uncultured bacterium clone OTU_7168 16S ribosomal RNA gene, partial sequencegi|1496544806|gb|MH530816.1|Nucleotide
-
Uncultured bacterium clone OTU_7123 16S ribosomal RNA gene, partial sequence
Uncultured bacterium clone OTU_7123 16S ribosomal RNA gene, partial sequencegi|1496544761|gb|MH530771.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024