RGD:8561763 Rat Genome Database

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Variant: RGD:8561763 -  Homo sapiens

RGD ID: 8561763
RS ID: rs1601748137
ClinVar ID: CV25596
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STS  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 7,243,540
GRCh38 X 7,325,499
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021472.2:g.183248G>T
NC_000023.11:g.7325499G>T
NC_000023.10:g.7243540G>T
NM_000351.4:c.1256+1G>T
More... 		11/03/2008 splice donor variant pathogenic Ichthyosis, X-Linked; Placental steroid sulfatase deficiency; Recessive X-linked ichthyosis; Steroid sulfatase deficiency; Steroid sulfatase deficiency disease; STS DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STS
Accession:NM_001320751
Location:INTRON

Gene Symbol:STS
Accession:NM_001320752
Location:INTRON

Gene Symbol:STS
Accession:NM_001320753
Location:INTRON

Gene Symbol:STS
Accession:NM_001320750
Location:INTRON

Gene Symbol:STS
Accession:NM_000351
Location:INTRON

Gene Symbol:STS
Accession:XM_047442107
Location:INTRON

Gene Symbol:STS
Accession:NM_001320754
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9252398  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011303 CLINVAR
dbSNP (RS) rs1601748137 CLINVAR
MedGen C0079588 CLINVAR
NCBI Gene STS CLINVAR
OMIM 300747 CLINVAR
  308100 CLINVAR
OMIM Allele 300747.0006 CLINVAR
SNOMED CT 72523005 CLINVAR