RGD:126755620 Rat Genome Database

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Variant: RGD:126755620 -  Homo sapiens

RGD ID: 126755620
RS ID: rs2070901186
ClinVar ID: CV999620
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC9A6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 135,092,747
GRCh38 X 136,010,588
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001042537.2:c.1041+5C>T
NM_001330652.2:c.789+5C>T
NM_001177651.2:c.885+5C>T
NM_001379110.1:c.885+5C>T
More... 		04/14/2020 intron variant uncertain significance Angelman-like syndrome X-linked; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; Mental retardation microcephaly epilepsy and ataxia syndrome; MRXS Christianson; none provided; SLC9A6-Related Syndromic Mental Retardation; X-linked mental retardation, syndromic, Christianson type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC9A6
Accession:NM_001400911
Location:INTRON

Gene Symbol:SLC9A6
Accession:NM_001042537
Location:INTRON

Gene Symbol:SLC9A6
Accession:NM_001400912
Location:INTRON

Gene Symbol:SLC9A6
Accession:NM_001379110
Location:INTRON

Gene Symbol:SLC9A6
Accession:XM_047441765
Location:INTRON

Gene Symbol:SLC9A6
Accession:NM_001400913
Location:INTRON

Gene Symbol:SLC9A6
Accession:NM_001177651
Location:INTRON

Gene Symbol:SLC9A6
Accession:NM_001330652
Location:INTRON

Gene Symbol:SLC9A6
Accession:NM_001400910
Location:INTRON

Gene Symbol:SLC9A6
Accession:NM_001400909
Location:INTRON

Gene Symbol:SLC9A6
Accession:NM_006359
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001298393 CLINVAR
  RCV001751571 CLINVAR
dbSNP (RS) rs2070901186 CLINVAR
MedGen C2678194 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC9A6 CLINVAR
OMIM 300231 CLINVAR
  300243 CLINVAR