NM_000138.5(FBN1):c.8582A>T (p.Asn2861Ile) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002530898.2
Allele description [Variation Report for NM_000138.5(FBN1):c.8582A>T (p.Asn2861Ile)]
NM_000138.5(FBN1):c.8582A>T (p.Asn2861Ile)
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
-
Homo sapiens chromosome 8 open reading frame 34, mRNA (cDNA clone MGC:44654 IMAG...
Homo sapiens chromosome 8 open reading frame 34, mRNA (cDNA clone MGC:44654 IMAGE:5302156), complete cdsgi|27697165|gb|BC041961.1|Nucleotide
-
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform i...
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X2 [Pan paniscus]gi|2694382527|ref|XP_034810799.3|Protein
-
cytochrome c oxidase subunit I, partial (mitochondrion) [Zoanthus sansibaricus]
cytochrome c oxidase subunit I, partial (mitochondrion) [Zoanthus sansibaricus]gi|1999110077|gb|QSR89890.1|Protein
-
NADH dehydrogenase subunit 1 (mitochondrion) [Homo sapiens]
NADH dehydrogenase subunit 1 (mitochondrion) [Homo sapiens]gi|373445369|gb|AEY70970.1|Protein
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Last Updated: May 7, 2024