NM_000138.5(FBN1):c.4161C>T (p.Tyr1387=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001504653.7
Allele description [Variation Report for NM_000138.5(FBN1):c.4161C>T (p.Tyr1387=)]
NM_000138.5(FBN1):c.4161C>T (p.Tyr1387=)
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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protein phosphatase 1 regulatory subunit 26 isoform X1 [Homo sapiens]
protein phosphatase 1 regulatory subunit 26 isoform X1 [Homo sapiens]gi|2462627553|ref|XP_054220317.1|Protein
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PREDICTED: Homo sapiens protein phosphatase 1 regulatory subunit 26 (PPP1R26), t...
PREDICTED: Homo sapiens protein phosphatase 1 regulatory subunit 26 (PPP1R26), transcript variant X5, mRNAgi|2217382448|ref|XM_047424209.1|Nucleotide
-
N-acylethanolamine-hydrolyzing acid amidase isoform X1 [Homo sapiens]
N-acylethanolamine-hydrolyzing acid amidase isoform X1 [Homo sapiens]gi|1034639359|ref|XP_016863517.1|Protein
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PREDICTED: Homo sapiens N-acylethanolamine acid amidase (NAAA), transcript varia...
PREDICTED: Homo sapiens N-acylethanolamine acid amidase (NAAA), transcript variant X9, mRNAgi|2462596502|ref|XM_054349692.1|Nucleotide
-
Homo sapiens cDNA FLJ14331 fis, clone PLACE4000320
Homo sapiens cDNA FLJ14331 fis, clone PLACE4000320gi|10436771|dbj|AK024393.1|Nucleotide
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Last Updated: Sep 29, 2024