RGD:38596903 Rat Genome Database

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Variant: RGD:38596903 -  Homo sapiens

RGD ID: 38596903
RS ID: rs1302551197
ClinVar ID: CV964027
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDST1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 149,918,783
GRCh38 5 150,539,221
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.9:g.149918783T>G
NM_001543.4:c.1438-7T>G
NM_001301063.2:c.1438-7T>G
NM_001543.5:c.1438-7T>G
More... 		01/01/2019 intron variant likely benign Intellectual developmental disorder; intellectual disabilities; Intellectual functioning disability
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:NDST1
Accession:NM_001543
Location:INTRON

Gene Symbol:NDST1
Accession:NM_001301063
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001252596 CLINVAR
dbSNP (RS) rs1302551197 CLINVAR
MedGen C3714756 CLINVAR
NCBI Gene NDST1 CLINVAR
OMIM 600853 CLINVAR
SNOMED CT 228156007 CLINVAR