NM_001382567.1(STIM1):c.1213G>A (p.Val405Ile) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002297098.4
Allele description [Variation Report for NM_001382567.1(STIM1):c.1213G>A (p.Val405Ile)]
NM_001382567.1(STIM1):c.1213G>A (p.Val405Ile)
Condition(s)
- Name:
- Stormorken syndrome (STRMK)
- Synonyms:
- THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS
- Identifiers:
- MONDO: MONDO:0008497; MedGen: C1861451; Orphanet: 3204; OMIM: 185070
-
PREDICTED: Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent...
PREDICTED: Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like (MTHFD2L), transcript variant X4, mRNAgi|1370486970|ref|XM_017008220.2|Nucleotide
-
Homo sapiens zinc finger protein 383 (ZNF383), transcript variant 4, mRNA
Homo sapiens zinc finger protein 383 (ZNF383), transcript variant 4, mRNAgi|1066522463|ref|NM_152604.2|Nucleotide
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Last Updated: Sep 29, 2024