NM_001382567.1(STIM1):c.177G>A (p.Glu59=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000876850.9
Allele description [Variation Report for NM_001382567.1(STIM1):c.177G>A (p.Glu59=)]
NM_001382567.1(STIM1):c.177G>A (p.Glu59=)
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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df83a05.y1 Xenopus laevis oocyte non normalized Xenopus laevis cDNA clone IMAGE:...
df83a05.y1 Xenopus laevis oocyte non normalized Xenopus laevis cDNA clone IMAGE:3745904 5', mRNA sequencegi|10064683|gnl|dbEST|5940510|gb|BE 4.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024