RGD:12834648 Rat Genome Database

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Variant: RGD:12834648 -  Homo sapiens

RGD ID: 12834648
RS ID: rs375265267
ClinVar ID: CV379950
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A8  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 152,959,971
GRCh38 X 153,694,516
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.1151-17G>A
NC_000023.11:g.153694516G>A
NC_000023.10:g.152959971G>A
NM_001142805.2:c.1466-17G>A
More... 		08/09/2021 intron variant benign|likely benign 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_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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000420312 CLINVAR
  RCV002059636 CLINVAR
dbSNP (RS) rs375265267 CLINVAR
MedGen C1845862 CLINVAR
  CN169374 CLINVAR
NCBI Gene SLC6A8 CLINVAR
OMIM 300036 CLINVAR
  300352 CLINVAR