NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (7 submissions)
- Last evaluated:
- Jan 17, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000116001.34
Allele description [Variation Report for NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)]
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
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: Rattus norvegicus solute carrier family 12 member 5 (Slc12a5), transc...
PREDICTED: Rattus norvegicus solute carrier family 12 member 5 (Slc12a5), transcript variant X5, mRNAgi|2678927052|ref|XM_039104209.2|Nucleotide
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solute carrier family 12 member 5 isoform X2 [Rattus norvegicus]
solute carrier family 12 member 5 isoform X2 [Rattus norvegicus]gi|1958759701|ref|XP_038960133.1|Protein
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hypothetical protein FOB63_005478 [Clavispora lusitaniae]
hypothetical protein FOB63_005478 [Clavispora lusitaniae]gi|1905485108|gb|KAF7580408.1||gnl| AASFG|g5488.t1.CDSProtein
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RecName: Full=Solute carrier family 12 member 5; AltName: Full=Electroneutral po...
RecName: Full=Solute carrier family 12 member 5; AltName: Full=Electroneutral potassium-chloride cotransporter 2; AltName: Full=Furosemide-sensitive K-Cl cotransporter; AltName: Full=K-Cl cotransporter 2; Short=rKCC2; AltName: Full=Neuronal K-Cl cotransportergi|161784287|sp|Q63633.2|S12A5_RATProtein
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JAK1B (0)
OMIM
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024