RGD:8562656 Rat Genome Database

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Variant: RGD:8562656 -  Homo sapiens

RGD ID: 8562656
RS ID: rs1569539244
ClinVar ID: CV26740
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A8  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 152,955,828
GRCh38 X 153,690,373
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_005629.4:c.263-2A>G
NC_000023.11:g.153690373A>G
NC_000023.10:g.152955828A>G
NG_012016.2:g.7077A>G
More... 		09/14/2022 splice acceptor variant pathogenic childhood|infancy <1 / 1 000 000 CEREBRAL CREATINE DEFICIENCY SYNDROME 1; Creatine deficiency, X-linked; CREATINE TRANSPORTER DEFECT; Mental retardation , X-linked with seizures, short stature and midface hypoplasia; Mental retardation , X-linked, with creatine transport deficiency; SLC6A8-Related Creatine Transporter Deficiency; X-linked creatine deficiency syndrome; X-linked creatine transporter deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC6A8
Accession:NM_001142806
Location:5UTRS;INTRON

Gene Symbol:SLC6A8
Accession:NM_005629
Location:INTRON

Gene Symbol:SLC6A8
Accession:NM_001142805
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:12536364   PMID:12889669   PMID:15154114   PMID:16086185   PMID:20717164   PMID:25590979   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000012467 CLINVAR
dbSNP (RS) rs1569539244 CLINVAR
MedGen C1845862 CLINVAR
NCBI Gene SLC6A8 CLINVAR
OMIM 300036 CLINVAR
  300352 CLINVAR
OMIM Allele 300036.0006 CLINVAR