RGD:11633049 Rat Genome Database

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Variant: RGD:11633049 -  Homo sapiens

RGD ID: 11633049
RS ID: rs886041358
ClinVar ID: CV265071
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHEX  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 22,129,583
GRCh38 X 22,111,465
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282754.2:c.1080-2A>G
NM_000444.4:c.1080-2A>G
NG_007563.2:g.83663A>G
NC_000023.11:g.22111465A>G
More... 		11/27/2019 splice acceptor variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:PHEX
Accession:XM_011545536
Location:5UTRS;INTRON

Gene Symbol:PHEX
Accession:NM_001282754
Location:INTRON

Gene Symbol:PHEX
Accession:XM_011545533
Location:INTRON

Gene Symbol:PHEX
Accession:XM_017029579
Location:INTRON

Gene Symbol:PHEX
Accession:XM_047442159
Location:INTRON

Gene Symbol:PHEX
Accession:NM_000444
Location:INTRON

Gene Symbol:PHEX
Accession:XM_024452390
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9097956   PMID:26904698   PMID:28492532   PMID:30682568  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000309115 CLINVAR
dbSNP (RS) rs886041358 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PHEX CLINVAR
OMIM 300550 CLINVAR