RGD:13435348 Rat Genome Database

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Variant: RGD:13435348 -  Homo sapiens

RGD ID: 13435348
RS ID: rs1556128253
ClinVar ID: CV432169
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHEX  PTCHD1-AS  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 22,231,077
GRCh38 X 22,212,960
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.185157T>C
NC_000023.11:g.22212960T>C
NC_000023.10:g.22231077T>C
NM_000444.6:c.1700+2T>C
More... 		02/07/2022 splice donor variant pathogenic 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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PHEX
Accession:XM_011545536
Location:INTRON

Gene Symbol:PHEX
Accession:XM_047442159
Location:INTRON

Gene Symbol:PHEX
Accession:XM_024452390
Location:INTRON

Gene Symbol:PHEX
Accession:XM_017029579
Location:INTRON

Gene Symbol:PHEX
Accession:NM_001282754
Location:INTRON

Gene Symbol:PHEX
Accession:NM_000444
Location:INTRON

Gene Symbol:PHEX
Accession:XM_011545533
Location:INTRON

Gene Symbol:PTCHD1-AS
Accession:NR_073010
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9199930   PMID:25741868   PMID:35738466  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000505466 CLINVAR
  RCV001843308 CLINVAR
dbSNP (RS) rs1556128253 CLINVAR
MedGen C0733682 CLINVAR
  C1704375 CLINVAR
NCBI Gene PHEX CLINVAR
  PTCHD1-AS CLINVAR
OMIM 300550 CLINVAR
  307800 CLINVAR
SNOMED CT 82236004 CLINVAR