NM_000138.5(FBN1):c.6038-18C>T AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002066539.6
Allele description [Variation Report for NM_000138.5(FBN1):c.6038-18C>T]
NM_000138.5(FBN1):c.6038-18C>T
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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CBWN3551.b1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8855809 5', mR...
CBWN3551.b1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8855809 5', mRNA sequencegi|133783430|gnl|dbEST|45213036|gb| 076.1|Nucleotide
-
JGI_CAAK2650.fwd NIH_XGC_tropBrn3 Xenopus tropicalis cDNA clone IMAGE:7653474 5'...
JGI_CAAK2650.fwd NIH_XGC_tropBrn3 Xenopus tropicalis cDNA clone IMAGE:7653474 5', mRNA sequencegi|58400022|gnl|dbEST|27514701|gb|C 92.1|Nucleotide
-
bl36g06.w1 Blackshear/Soares normalized Xenopus egg library Xenopus laevis cDNA ...
bl36g06.w1 Blackshear/Soares normalized Xenopus egg library Xenopus laevis cDNA clone PBX0036G06 5', mRNA sequencegi|7392759|gnl|dbEST|4072204|gb|AW6 .1|Nucleotide
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Last Updated: Sep 29, 2024