RGD:13801467 Rat Genome Database

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Variant: RGD:13801467 -  Homo sapiens

RGD ID: 13801467
RS ID: rs1569511600
ClinVar ID: CV577968
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC35A2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 48,767,272
GRCh38 X 48,909,995
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_005651.1:p.Ala31=
NG_034300.1:g.6964T>C
NC_000023.10:g.48767272A>G
NM_001282647.2:c.93T>C
More... 		01/04/2019 intron variant likely benign|uncertain significance CDG IIm; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm, SOMATIC MOSAIC; DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 22; none provided; SLC35A2-CDG
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC35A2
Accession:NM_005660
Location:EXON

Gene Symbol:SLC35A2
Accession:NM_001042498
Location:EXON

Gene Symbol:SLC35A2
Accession:NM_001282651
Location:EXON

Gene Symbol:SLC35A2
Accession:NM_001282650
Location:EXON

Gene Symbol:SLC35A2
Accession:NM_001282647
Location:EXON

Gene Symbol:SLC35A2
Accession:NM_001282648
Location:EXON

Gene Symbol:SLC35A2
Accession:NM_001032289
Location:EXON

Gene Symbol:SLC35A2
Accession:NM_001282649
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000713316 CLINVAR
  RCV003741215 CLINVAR
dbSNP (RS) rs1569511600 CLINVAR
MedGen C3661900 CLINVAR
  C3806688 CLINVAR
NCBI Gene SLC35A2 CLINVAR
OMIM 300896 CLINVAR
  314375 CLINVAR