rs2147164011 Rat Genome Database

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Variant: rs2147164011 -  Homo sapiens

RGD ID: 151887179
RS ID: rs2147164011
ClinVar ID: CV1464482
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHEX  PTCHD1-AS  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 22,231,019
GRCh38 X 22,212,902
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000444.6:c.1646-2A>G
NM_001282754.2:c.1646-2A>G
NG_007563.2:g.185099A>G
NC_000023.11:g.22212902A>G
More... 		07/13/2021 splice acceptor 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_017029579
Location:INTRON

Gene Symbol:PHEX
Accession:XM_047442159
Location:INTRON

Gene Symbol:PHEX
Accession:XM_011545536
Location:INTRON

Gene Symbol:PHEX
Accession:XM_024452390
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:9097956   PMID:9106524   PMID:16199547   PMID:19219621   PMID:24836714   PMID:26543054   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001942332 CLINVAR
  RCV002246619 CLINVAR
dbSNP (RS) rs2147164011 CLINVAR
MedGen C0733682 CLINVAR
  C3661900 CLINVAR
NCBI Gene PHEX CLINVAR
  PTCHD1-AS CLINVAR
OMIM 300550 CLINVAR
  307800 CLINVAR
SNOMED CT 82236004 CLINVAR