NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp) AND Karak syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 1, 2006
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000006576.4
Allele description [Variation Report for NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp)]
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp)
Condition(s)
- Name:
- Karak syndrome
- Identifiers:
- MedGen: C2750220
-
pyruvate decarboxylase 4-like [Raphanus sativus]
pyruvate decarboxylase 4-like [Raphanus sativus]gi|1072983400|ref|XP_018442241.1|Protein
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Last Updated: Aug 4, 2024