NM_001382567.1(STIM1):c.1400A>G (p.Asn467Ser) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003798069.1
Allele description [Variation Report for NM_001382567.1(STIM1):c.1400A>G (p.Asn467Ser)]
NM_001382567.1(STIM1):c.1400A>G (p.Asn467Ser)
Condition(s)
- Name:
- Stormorken syndrome (STRMK)
- Synonyms:
- THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS
- Identifiers:
- MONDO: MONDO:0008497; MedGen: C1861451; Orphanet: 3204; OMIM: 185070
-
Concise Conserved Domain Links for Protein (Select 37700254) (1)
Conserved Domains
-
txid324869[Organism:noexp] (93)
Identical Protein Groups
-
BioProject Links for Protein (Select 1060099070) (2)
BioProject
-
Taxonomy Links for Protein (Select 194386310) (1)
Taxonomy
-
1945343[uid] (1)
Taxonomy
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024