NM_001032221.6(STXBP1):c.743C>T (p.Thr248Ile) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 31, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000436434.1
Allele description [Variation Report for NM_001032221.6(STXBP1):c.743C>T (p.Thr248Ile)]
NM_001032221.6(STXBP1):c.743C>T (p.Thr248Ile)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
guanine nucleotide-binding protein G(q) subunit alpha isoform X1 [Leptopilina bo...
guanine nucleotide-binding protein G(q) subunit alpha isoform X1 [Leptopilina boulardi]gi|2322531077|ref|XP_051174098.1|Protein
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Last Updated: Nov 4, 2023