rs886041224 Rat Genome Database

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Variant: rs886041224 -  Homo sapiens

RGD ID: 11632730
RS ID: rs886041224
ClinVar ID: CV265149
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHEX  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 22,208,619
GRCh38 X 22,190,502
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.162699C>T
NC_000023.11:g.22190502C>T
NC_000023.10:g.22208619C>T
NP_000435.3:p.Arg549Ter
More... 		01/12/2024 nonsense pathogenic|benign 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_000444
Location:INTRON

Gene Symbol:PHEX
Accession:XM_024452390
Location:INTRON

Gene Symbol:PHEX
Accession:XM_047442159
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

Variant Samples
Additional References at PubMed
PMID:9097956   PMID:9106524   PMID:14564077   PMID:19219621   PMID:21902834   PMID:24836714   PMID:25525159   PMID:25741868   PMID:26467025   PMID:28492532   PMID:29460029  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000280838 CLINVAR
  RCV002250611 CLINVAR
dbSNP (RS) rs886041224 CLINVAR
MedGen C0733682 CLINVAR
  C3661900 CLINVAR
NCBI Gene PHEX CLINVAR
OMIM 300550 CLINVAR
  307800 CLINVAR
SNOMED CT 82236004 CLINVAR