NM_000138.5(FBN1):c.*2533C>A AND MASS syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000287166.5
Allele description [Variation Report for NM_000138.5(FBN1):c.*2533C>A]
NM_000138.5(FBN1):c.*2533C>A
Condition(s)
-
serine/threonine-protein kinase RIO1 isoform 3 [Homo sapiens]
serine/threonine-protein kinase RIO1 isoform 3 [Homo sapiens]gi|1131742490|ref|NP_001335123.1|Protein
-
Homo sapiens Indian hedgehog homolog (Drosophila), mRNA (cDNA clone MGC:168201 I...
Homo sapiens Indian hedgehog homolog (Drosophila), mRNA (cDNA clone MGC:168201 IMAGE:9020578), complete cdsgi|223460383|gb|BC136588.1|Nucleotide
-
UI-R-DK0-ced-g-08-0-UI.s1 UI-R-DK0 Rattus norvegicus cDNA clone UI-R-DK0-ced-g-0...
UI-R-DK0-ced-g-08-0-UI.s1 UI-R-DK0 Rattus norvegicus cDNA clone UI-R-DK0-ced-g-08-0-UI 3', mRNA sequencegi|14957868|gnl|dbEST|9097887|gb|BI 1.1|Nucleotide
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Last Updated: Mar 30, 2024