RGD:126725167 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:126725167 -  Homo sapiens

RGD ID: 126725167
RS ID: rs1064795147
ClinVar ID: CV1018972
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHEX  PTCHD1-AS  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 22,245,623
GRCh38 X 22,227,506
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007563.2:g.199703G>T
NC_000023.11:g.22227506G>T
NC_000023.10:g.22245623G>T
NR_073010.2:n.1012C>A
More... 		01/12/2024 non-coding transcript variant likely pathogenic|benign AllHighlyPenetrant; Hypophosphatemia, vitamin D-resistant rickets; Hypophosphatemic Rickets, X-Linked Dominant; HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS; Vitamin D-resistant rickets, X-linked
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PTCHD1-AS
Accession:NR_073010
Location:EXON;NON-CODING

Gene Symbol:PHEX
Accession:NM_000444
Location:INTRON

Gene Symbol:PHEX
Accession:NM_001282754
Location:INTRON

Gene Symbol:PHEX
Accession:XM_011545533
Location:INTRON

Gene Symbol:PHEX
Accession:XM_011545536
Location:INTRON

Gene Symbol:PHEX
Accession:XM_017029579
Location:INTRON

Gene Symbol:PHEX
Accession:XM_024452390
Location:INTRON

Gene Symbol:PHEX
Accession:XM_047442159
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001331239 CLINVAR
  RCV003483819 CLINVAR
dbSNP (RS) rs1064795147 CLINVAR
MedGen C0733682 CLINVAR
  CN169374 CLINVAR
NCBI Gene PHEX CLINVAR
  PTCHD1-AS CLINVAR
OMIM 300550 CLINVAR
  307800 CLINVAR
SNOMED CT 82236004 CLINVAR