RGD:11666029 Rat Genome Database

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Variant: RGD:11666029 -  Homo sapiens

RGD ID: 11666029
RS ID: rs537119483
ClinVar ID: CV353611
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: CASR  
Reference Nucleotide: C
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 3 121,902,523
GRCh38 3 122,183,676
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_000388.4:c.-378del
NG_009058.2:g.5010del
NC_000003.12:g.122183677del
NC_000003.11:g.121902524del
More... 		06/14/2016 2kb upstream variant|5 prime utr variant likely benign all ages|neonatal <1 / 1 000 000 Familial benign hypercalcemia; Familial isolated hypoparathyroidism; Neonatal severe hyperparathyroidism
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Hypocalcemia  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:CASR
Accession:NM_000388
Location:5UTRS;EXON

Gene Symbol:CASR
Accession:XM_006713789
Location:INTRON

Gene Symbol:CASR
Accession:NM_001178065
Location:INTRON

Gene Symbol:CASR
Accession:XM_017007325
Location:INTRON

Gene Symbol:CASR
Accession:XM_017007324
Location:INTRON

Gene Symbol:CASR
Accession:XM_047449065
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000310837 CLINVAR
  RCV000314365 CLINVAR
  RCV000345882 CLINVAR
  RCV000395625 CLINVAR
dbSNP (RS) rs537119483 CLINVAR
MedGen C0020598 CLINVAR
  C1809471 CLINVAR
  C1832615 CLINVAR
  C1832648 CLINVAR
NCBI Gene CASR CLINVAR
OMIM 239200 CLINVAR
  601199 CLINVAR
SNOMED CT 237885008 CLINVAR