NM_000138.5(FBN1):c.4159T>G (p.Tyr1387Asp) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 24, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000805224.7
Allele description [Variation Report for NM_000138.5(FBN1):c.4159T>G (p.Tyr1387Asp)]
NM_000138.5(FBN1):c.4159T>G (p.Tyr1387Asp)
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
-
263147[uid] (1)
Taxonomy
-
Sinibrama melrosei voucher LIHNHB2 cytochrome oxidase subunit 1 (COI) gene, part...
Sinibrama melrosei voucher LIHNHB2 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrialgi|2274456199|gnl|uoguelph|CUBAR552 OI-5P|gb|MZ403654.1|Nucleotide
-
Table 3.25, Summary of judgements: Routine cardiotocography (CTG) on admission c...
Table 3.25, Summary of judgements: Routine cardiotocography (CTG) on admission compared with auscultation of the fetal heart with Doppler ultrasound device or Pinard fetal stethoscope on admission - WHO recommendations: Intrapartum care for a positive childbirth experience
-
nssv1618237 (0)
Protein Family Models
-
PREDICTED: Drosophila virilis C-terminal-binding protein (LOC6632368), transcrip...
PREDICTED: Drosophila virilis C-terminal-binding protein (LOC6632368), transcript variant X3, mRNAgi|1808469661|ref|XM_032433644.1|Nucleotide
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Last Updated: Sep 29, 2024