RGD:11628976 Rat Genome Database

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Variant: RGD:11628976 -  Homo sapiens

RGD ID: 11628976
RS ID: rs534550003
ClinVar ID: CV352814
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHEX  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 22,051,248
GRCh38 X 22,033,130
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_007563.2:g.5328G>T
NC_000023.11:g.22033130G>T
NC_000023.10:g.22051248G>T
NM_000444.4:c.118+7G>T
More... 		11/01/2022 intron variant benign|likely benign|uncertain significance childhood AllHighlyPenetrant; Hypophosphatemia, vitamin D-resistant rickets; Hypophosphatemic Rickets, X-Linked Dominant; HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS; none provided; Vitamin D-resistant rickets, X-linked
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PHEX
Accession:XM_017029579
Location:INTRON

Gene Symbol:PHEX
Accession:XM_024452390
Location:INTRON

Gene Symbol:PHEX
Accession:XM_047442159
Location:INTRON

Gene Symbol:PHEX
Accession:XM_011545536
Location:INTRON

Gene Symbol:PHEX
Accession:NM_001282754
Location:INTRON

Gene Symbol:PHEX
Accession:XM_011545533
Location:INTRON

Gene Symbol:PHEX
Accession:NM_000444
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:35738466  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000312989 CLINVAR
  RCV000920929 CLINVAR
  RCV001796022 CLINVAR
  RCV001843517 CLINVAR
  RCV003950312 CLINVAR
dbSNP (RS) rs534550003 CLINVAR
MedGen C0733682 CLINVAR
  C1704375 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PHEX CLINVAR
OMIM 300550 CLINVAR
  307800 CLINVAR
SNOMED CT 82236004 CLINVAR