RGD:28885366 Rat Genome Database

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Variant: RGD:28885366 -  Homo sapiens

RGD ID: 28885366
RS ID: rs183223600
ClinVar ID: CV902992
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHEX  PTCHD1-AS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 22,266,128
GRCh38 X 22,248,011
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.220208C>T
NC_000023.11:g.22248011C>T
NC_000023.10:g.22266128C>T
NM_000444.4:c.*58C>T
More... 		01/13/2018 3 prime utr variant benign 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


Variant Details
Variant Transcripts
Gene Symbol:PHEX
Accession:XM_011545536
Location:3UTRS;EXON

Gene Symbol:PHEX
Accession:XM_017029579
Location:3UTRS;EXON

Gene Symbol:PHEX
Accession:NM_001282754
Location:3UTRS;EXON

Gene Symbol:PHEX
Accession:XM_011545533
Location:3UTRS;EXON

Gene Symbol:PHEX
Accession:NM_000444
Location:3UTRS;EXON

Gene Symbol:PHEX
Accession:XM_024452390
Location:3UTRS;EXON

Gene Symbol:PHEX
Accession:XM_047442159
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001168752 CLINVAR
dbSNP (RS) rs183223600 CLINVAR
MedGen C0733682 CLINVAR
NCBI Gene PHEX CLINVAR
  PTCHD1-AS CLINVAR
OMIM 300550 CLINVAR
  307800 CLINVAR
SNOMED CT 82236004 CLINVAR