RGD:12844526 Rat Genome Database

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Variant: RGD:12844526 -  Homo sapiens

RGD ID: 12844526
RS ID: rs782433720
ClinVar ID: CV378961
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 152,957,016
GRCh38 X 153,691,561
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NC_000023.11:g.153691561C>T
NC_000023.10:g.152957016C>T
NM_001142806.1:c.299+8C>T
NG_012016.2:g.8265C>T
More... 		01/31/2019 intron variant likely benign childhood AllHighlyPenetrant; 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:INTRON

Gene Symbol:SLC6A8
Accession:NM_005629
Location:INTRON

Gene Symbol:SLC6A8
Accession:NM_001142805
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000438141 CLINVAR
  RCV000458564 CLINVAR
  RCV003959944 CLINVAR
dbSNP (RS) rs782433720 CLINVAR
MedGen C1845862 CLINVAR
  CN169374 CLINVAR
NCBI Gene SLC6A8 CLINVAR
OMIM 300036 CLINVAR
  300352 CLINVAR