RGD:26919607 Rat Genome Database

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Variant: RGD:26919607 -  Homo sapiens

RGD ID: 26919607
RS ID: rs1057520582
ClinVar ID: CV852491
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHEX  PTCHD1-AS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 22,231,076
GRCh38 X 22,212,959
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.1700+1G>A
NM_001282754.2:c.1700+1G>A
NG_007563.2:g.185156G>A
NC_000023.11:g.22212959G>A
More... 		11/29/2019 splice donor variant pathogenic none provided

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_017029579
Location:INTRON

Gene Symbol:PHEX
Accession:XM_011545533
Location:INTRON

Gene Symbol:PHEX
Accession:XM_011545536
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001045953 CLINVAR
dbSNP (RS) rs1057520582 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PHEX CLINVAR
  PTCHD1-AS CLINVAR
OMIM 300550 CLINVAR