RGD:38463833 Rat Genome Database

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Variant: RGD:38463833 -  Homo sapiens

RGD ID: 38463833
RS ID: rs199824580
ClinVar ID: CV920186
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CASR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 121,981,262
GRCh38 3 122,262,415
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000388.4:c.1377+3G>A
NM_001178065.2:c.1377+3G>A
NG_009058.2:g.83748G>A
NC_000003.12:g.122262415G>A
More... 		09/11/2019 intron variant uncertain significance Autosomal dominant hypocalcemia 1; Familial benign hypercalcemia; HYPOCALCEMIA, FAMILIAL
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CASR
Accession:NM_001178065
Location:INTRON

Gene Symbol:CASR
Accession:NM_000388
Location:INTRON

Gene Symbol:CASR
Accession:XM_006713789
Location:INTRON

Gene Symbol:CASR
Accession:XM_017007324
Location:INTRON

Gene Symbol:CASR
Accession:XM_017007325
Location:INTRON

Gene Symbol:CASR
Accession:XM_047449065
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001199333 CLINVAR
  RCV002560267 CLINVAR
dbSNP (RS) rs199824580 CLINVAR
MedGen C0342345 CLINVAR
  C1809471 CLINVAR
NCBI Gene CASR CLINVAR
OMIM 601198 CLINVAR
  601199 CLINVAR
SNOMED CT 237885008 CLINVAR