NM_005343.4(HRAS):c.112-13T>A AND Costello syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002069390.6
Allele description [Variation Report for NM_005343.4(HRAS):c.112-13T>A]
NM_005343.4(HRAS):c.112-13T>A
Condition(s)
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PREDICTED: Homo sapiens serpin family I member 1 (SERPINI1), transcript variant ...
PREDICTED: Homo sapiens serpin family I member 1 (SERPINI1), transcript variant X1, mRNAgi|2217344355|ref|XM_017006618.3|Nucleotide
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Taxonomy Links for Protein (Select 551702050) (1)
Taxonomy
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Taxonomy Links for Protein (Select 551702047) (1)
Taxonomy
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PSME1 proteasome activator subunit 1 [Homo sapiens]
PSME1 proteasome activator subunit 1 [Homo sapiens]Gene ID:5720Gene
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Gene Links for GEO Profiles (Select 132368175) (1)
Gene
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Last Updated: Sep 29, 2024