RGD:21073413 Rat Genome Database

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Variant: RGD:21073413 -  Homo sapiens

RGD ID: 21073413
RS ID: rs1602442871
ClinVar ID: CV792249
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHEX  PTCHD1-AS  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 22,266,069
GRCh38 X 22,247,952
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.220149A>G
NC_000023.11:g.22247952A>G
NC_000023.10:g.22266069A>G
NP_000435.3:p.Ter750Trp
More... 		05/28/2019 3 prime utr variant likely 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


Variant Details
Variant Transcripts
Gene Symbol:PHEX
Accession:NM_001282754
Location:3UTRS;EXON

Gene Symbol:PHEX
Accession:XM_011545536
Location:EXON

Gene Symbol:PHEX
Accession:XM_024452390
Location:EXON

Gene Symbol:PHEX
Accession:NM_000444
Location:EXON

Gene Symbol:PHEX
Accession:XM_017029579
Location:EXON

Gene Symbol:PHEX
Accession:XM_011545533
Location: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 RCV000990550 CLINVAR
dbSNP (RS) rs1602442871 CLINVAR
MedGen C0733682 CLINVAR
NCBI Gene PHEX CLINVAR
  PTCHD1-AS CLINVAR
OMIM 300550 CLINVAR
  307800 CLINVAR
SNOMED CT 82236004 CLINVAR