NM_000535.7(PMS2):c.1602C>G (p.Asp534Glu) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- May 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000575764.4
Allele description [Variation Report for NM_000535.7(PMS2):c.1602C>G (p.Asp534Glu)]
NM_000535.7(PMS2):c.1602C>G (p.Asp534Glu)
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
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PREDICTED: Macaca fascicularis phospholipid phosphatase 5 (PLPP5), transcript va...
PREDICTED: Macaca fascicularis phospholipid phosphatase 5 (PLPP5), transcript variant X3, mRNAgi|2739331482|ref|XM_045399042.2|Nucleotide
-
phospholipid phosphatase 5 isoform X5 [Macaca fascicularis]
phospholipid phosphatase 5 isoform X5 [Macaca fascicularis]gi|2739331487|ref|XP_005563148.2|Protein
-
PREDICTED: Macaca fascicularis phospholipid phosphatase 5 (PLPP5), transcript va...
PREDICTED: Macaca fascicularis phospholipid phosphatase 5 (PLPP5), transcript variant X4, mRNAgi|2739331484|ref|XM_005563090.4|Nucleotide
-
Homo sapiens polypyrimidine tract binding protein 2 (PTBP2), mRNA
Homo sapiens polypyrimidine tract binding protein 2 (PTBP2), mRNAgi|10863996|ref|NM_021190.1|Nucleotide
-
Arabidopsis thaliana RNA-binding (RRM/RBD/RNP motifs) family protein (AT3G23370)...
Arabidopsis thaliana RNA-binding (RRM/RBD/RNP motifs) family protein (AT3G23370), mRNAgi|1063713286|ref|NM_001338628.1|Nucleotide
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Last Updated: Sep 29, 2024