RGD:13435360 Rat Genome Database

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Variant: RGD:13435360 -  Homo sapiens

RGD ID: 13435360
RS ID: rs1064796928
ClinVar ID: CV432165
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHEX  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 22,196,494
GRCh38 X 22,178,377
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.150574G>A
NC_000023.11:g.22178377G>A
NC_000023.10:g.22196494G>A
NM_000444.6:c.1586+1G>A
More... 		06/29/2019 splice donor variant pathogenic 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


Variant Details
Variant Transcripts
Gene Symbol:PHEX
Accession:NM_001282754
Location:INTRON

Gene Symbol:PHEX
Accession:XM_024452390
Location:INTRON

Gene Symbol:PHEX
Accession:XM_047442159
Location:INTRON

Gene Symbol:PHEX
Accession:NM_000444
Location:INTRON

Gene Symbol:PHEX
Accession:XM_011545533
Location:INTRON

Gene Symbol:PHEX
Accession:XM_017029579
Location:INTRON

Gene Symbol:PHEX
Accession:XM_011545536
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9097956   PMID:9106524   PMID:16199547   PMID:19219621   PMID:26051471   PMID:28492532   PMID:28506344  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000505483 CLINVAR
  RCV001215404 CLINVAR
dbSNP (RS) rs1064796928 CLINVAR
MedGen C0733682 CLINVAR
  C3661900 CLINVAR
NCBI Gene PHEX CLINVAR
OMIM 300550 CLINVAR
  307800 CLINVAR
SNOMED CT 82236004 CLINVAR