Single alleleRat Genome Database
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Variant : CV550797 (Single allele) Homo sapiens

Symbol: CV550797
Name: Single allele
RGD ID: 13784161
Condition: Hyperparathyroidism 1 [RCV000677958]
Clinical Significance: pathogenic
Last Evaluated: 04/25/2017
Review Status: criteria provided, single submitter
Related Genes: B3GALT2   CDC73   GLRX2   LINC01031   LOC111556116   MIR1278   MIR4426   RGS1   RGS13   RGS18   RGS2   RGS2-AS1   RGS21   RO60   SCARNA18B   UCHL5  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: provider interpretation
HGVS Name(s): NC_000001.11:g.191919194_194615758del
NC_000001.10:g.191888324_194584888del
Position
Human AssemblyChrPosition (strand)Source
GRCh381191,919,194 - 194,615,758CLINVAR
GRCh371191,888,324 - 194,584,888CLINVAR
Cytogenetic Map11q31.2-31.3CLINVAR
Trait Synonyms: CDC73-Related Parathyroid Carcinoma; Hyperparathyroidism 2; HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY; HYPERPARATHYROIDISM, FAMILIAL PRIMARY, WITH MULTIPLE OSSIFYING JAW FIBROMAS; HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY; Parathyroid cancer; Parathyroid carcinoma



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:21681106   PMID:28774260  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000677958 CLINVAR
MedGen C1840402 CLINVAR
NCBI Gene 111556116 CLINVAR
  B3GALT2 CLINVAR
  CDC73 CLINVAR
  GLRX2 CLINVAR
  LINC01031 CLINVAR
  LINC01032 CLINVAR
  MIR1278 CLINVAR
  MIR4426 CLINVAR
  RGS1 CLINVAR
  RGS13 CLINVAR
  RGS18 CLINVAR
  RGS2 CLINVAR
  RGS21 CLINVAR
  SCARNA18B CLINVAR
  TROVE2 CLINVAR
  UCHL5 CLINVAR
OMIM 145000 CLINVAR
  145001 CLINVAR
  600063 CLINVAR
  600323 CLINVAR
  600861 CLINVAR
  603018 CLINVAR
  606820 CLINVAR
  607190 CLINVAR
  607192 CLINVAR
  607393 CLINVAR
  608266 CLINVAR
  610667 CLINVAR
  612407 CLINVAR
SNOMED CT 255037004 CLINVAR