NM_000314.8(PTEN):c.1013C>A (p.Ser338Tyr) AND PTEN hamartoma tumor syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003621050.1
Allele description [Variation Report for NM_000314.8(PTEN):c.1013C>A (p.Ser338Tyr)]
NM_000314.8(PTEN):c.1013C>A (p.Ser338Tyr)
Condition(s)
- Name:
- PTEN hamartoma tumor syndrome (PHTS)
- Synonyms:
- PTEN Hamartomatous Tumour Syndrome; PTEN-related disorders
- Identifiers:
- MONDO: MONDO:0017623; MeSH: D006223; MedGen: C1959582
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PREDICTED: Homo sapiens beta-1,3-glucuronyltransferase 3 (B3GAT3), transcript va...
PREDICTED: Homo sapiens beta-1,3-glucuronyltransferase 3 (B3GAT3), transcript variant X1, mRNAgi|2462524416|ref|XM_054368393.1|Nucleotide
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Mouse DNA sequence from clone RP23-388P16 on chromosome 4, complete sequence
Mouse DNA sequence from clone RP23-388P16 on chromosome 4, complete sequencegi|53145776|emb|AL824709.35|Nucleotide
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RecName: Full=Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase ...
RecName: Full=Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3; AltName: Full=Beta-1,3-glucuronyltransferase 3; AltName: Full=Glucuronosyltransferase I; Short=GlcAT-I; AltName: Full=UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase; Short=GlcUAT-Igi|46577678|sp|O94766.2|B3GA3_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024