NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 17, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001862999.3
Allele description [Variation Report for NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys)]
NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys)
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
-
Tylopsacas cuneatum voucher US:3632589 photosystem II protein D1 (psbA) gene, pa...
Tylopsacas cuneatum voucher US:3632589 photosystem II protein D1 (psbA) gene, partial cds; and psbA-trnH intergenic spacer, partial sequence; chloroplastgi|1285894224|gb|MF786087.1|Nucleotide
-
nssv2845340 AND (alive[prop]) (0)
Gene
-
nssv2846689 (0)
PMC
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024