NM_000138.5(FBN1):c.2691T>C (p.Gly897=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 8, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000545290.7
Allele description [Variation Report for NM_000138.5(FBN1):c.2691T>C (p.Gly897=)]
NM_000138.5(FBN1):c.2691T>C (p.Gly897=)
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 calcium voltage-gated channel auxiliary subunit beta 1 (CACNB1), tr...
Homo sapiens calcium voltage-gated channel auxiliary subunit beta 1 (CACNB1), transcript variant 3, mRNAgi|1675175021|ref|NM_199248.3|Nucleotide
-
MAG: glutamine synthetase [archaeon GW2011_AR10]
MAG: glutamine synthetase [archaeon GW2011_AR10]gi|751385490|gnl|BanfieldUCB|QT03_C 1086|gb|AJF60570.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024