NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser) AND Marfan syndrome
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Mar 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000035185.6
Allele description [Variation Report for NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser)]
NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser)
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
-
Rajella barnardi voucher RA001493 cytochrome oxidase subunit 1 (COI) gene, parti...
Rajella barnardi voucher RA001493 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrialgi|296748279|gnl|uoguelph|ELAME725- I-5P|gb|GU805742.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2022