RGD:11589376 Rat Genome Database

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Variant: RGD:11589376 -  Homo sapiens

RGD ID: 11589376
RS ID: rs114449768
ClinVar ID: CV294895
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTH1R  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 46,939,696
GRCh38 3 46,898,206
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008864.1:g.25461T>C
NC_000003.12:g.46898206T>C
NC_000003.11:g.46939696T>C
NM_000316.3:c.543+14T>C
More... 		11/30/2021 intron variant benign|likely benign Blomstrand lethal osteochondrodysplasia; Blomstrand's lethal chondrodysplasia; Metaphyseal chondrodysplasia Murk Jansen type; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PTH1R
Accession:XM_047448633
Location:INTRON

Gene Symbol:PTH1R
Accession:XM_011533967
Location:INTRON

Gene Symbol:PTH1R
Accession:XM_011533968
Location:INTRON

Gene Symbol:PTH1R
Accession:NM_001184744
Location:INTRON

Gene Symbol:PTH1R
Accession:NM_000316
Location:INTRON

Gene Symbol:PTH1R
Accession:XM_017006934
Location:INTRON

Gene Symbol:PTH1R
Accession:XM_017006932
Location:INTRON

Gene Symbol:PTH1R
Accession:XM_047448632
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000310212 CLINVAR
  RCV000396745 CLINVAR
  RCV001643048 CLINVAR
dbSNP (RS) rs114449768 CLINVAR
MedGen C0265295 CLINVAR
  C1859148 CLINVAR
  C3661900 CLINVAR
NCBI Gene PTH1R CLINVAR
OMIM 156400 CLINVAR
  168468 CLINVAR
  215045 CLINVAR
SNOMED CT 24629003 CLINVAR