RGD:40886489 Rat Genome Database

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Variant: RGD:40886489 -  Homo sapiens

RGD ID: 40886489
RS ID: rs2091456256
ClinVar ID: CV972804
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A8  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 152,957,008
GRCh38 X 153,691,553
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001142806.1:c.299A>G
NM_001142805.2:c.644A>G
NM_005629.4:c.644A>G
NG_012016.1:g.8257A>G
More... 		03/01/2020 missense variant uncertain significance 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_005629
Location:INTRON

Gene Symbol:SLC6A8
Accession:NM_001142805
Location:INTRON

Gene Symbol:SLC6A8
Accession:NM_001142806
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001264825 CLINVAR
dbSNP (RS) rs2091456256 CLINVAR
MedGen C1845862 CLINVAR
NCBI Gene SLC6A8 CLINVAR
OMIM 300036 CLINVAR
  300352 CLINVAR