NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001081571.13
Allele description
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
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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carcinoembryonic antigen-related cell adhesion molecule 7 [Macaca fascicularis]
carcinoembryonic antigen-related cell adhesion molecule 7 [Macaca fascicularis]gi|2739273144|ref|XP_065391646.1|Protein
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MAG: Candidatus Pacebacteria bacterium RIFCSPHIGHO2_02_FULL_46_9 rifcsphigho2_02...
MAG: Candidatus Pacebacteria bacterium RIFCSPHIGHO2_02_FULL_46_9 rifcsphigho2_02_scaffold_23301, whole genome shotgun sequencegi|1083844987|gb|MFWS01000018.1||gn :MFWS01|rifcsphigho2_02_scaffold_23301Nucleotide
-
acetoacetyl-CoA synthetase isoform 6 [Homo sapiens]
acetoacetyl-CoA synthetase isoform 6 [Homo sapiens]gi|2412574398|ref|NP_001401606.1|Protein
-
cob(I)yrinic acid a,c-diamide adenosyltransferase [Lactobacillus delbrueckii]
cob(I)yrinic acid a,c-diamide adenosyltransferase [Lactobacillus delbrueckii]gi|499997180|ref|WP_011677898.1|Protein
-
Human trichohyalin (TRHY) gene, complete cds
Human trichohyalin (TRHY) gene, complete cdsgi|292835|gb|L09190.1|HUMTRHYALNucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024