NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001836714.10
Allele description [Variation Report for NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)]
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)
Condition(s)
- Name:
- Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- Identifiers:
- MONDO: MONDO:0100283; MedGen: CN300503
-
rab-like protein 2A isoform X5 [Homo sapiens]
rab-like protein 2A isoform X5 [Homo sapiens]gi|2462569567|ref|XP_054196248.1|Protein
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PREDICTED: Homo sapiens RAB, member of RAS oncogene family like 2A (RABL2A), tra...
PREDICTED: Homo sapiens RAB, member of RAS oncogene family like 2A (RABL2A), transcript variant X27, mRNAgi|2217325184|ref|XM_047443058.1|Nucleotide
-
rab-like protein 2A isoform 2 [Homo sapiens]
rab-like protein 2A isoform 2 [Homo sapiens]gi|807201143|ref|NP_001293088.1|Protein
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PREDICTED: Homo sapiens RAB, member of RAS oncogene family like 2A (RABL2A), tra...
PREDICTED: Homo sapiens RAB, member of RAS oncogene family like 2A (RABL2A), transcript variant X18, mRNAgi|2462569574|ref|XM_054340277.1|Nucleotide
-
PREDICTED: Homo sapiens RAB, member of RAS oncogene family like 2A (RABL2A), tra...
PREDICTED: Homo sapiens RAB, member of RAS oncogene family like 2A (RABL2A), transcript variant X26, mRNAgi|2462569590|ref|XM_054340285.1|Nucleotide
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Last Updated: Oct 8, 2024