NM_001382567.1(STIM1):c.498-14C>G AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003782000.1
Allele description [Variation Report for NM_001382567.1(STIM1):c.498-14C>G]
NM_001382567.1(STIM1):c.498-14C>G
Condition(s)
- Name:
- Stormorken syndrome (STRMK)
- Synonyms:
- THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS
- Identifiers:
- MONDO: MONDO:0008497; MedGen: C1861451; Orphanet: 3204; OMIM: 185070
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Structure for Protein (Select 1034655274) (2)
Structure
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Taxonomy Links for Nucleotide (Select 2217282179) (1)
Taxonomy
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Bacterium 081648 gene for 16S rRNA, complete sequence, strain: 081648
Bacterium 081648 gene for 16S rRNA, complete sequence, strain: 081648gi|146275437|dbj|AB202236.2|Nucleotide
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LINC00852 long intergenic non-protein coding RNA 852 [Homo sapiens]
LINC00852 long intergenic non-protein coding RNA 852 [Homo sapiens]Gene ID:84657Gene
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Gene Links for GEO Profiles (Select 77809802) (1)
Gene
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Last Updated: Mar 5, 2024