RGD:11583162 Rat Genome Database

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Variant: RGD:11583162 -  Homo sapiens

RGD ID: 11583162
RS ID: rs375098683
ClinVar ID: CV280702
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHDDS  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 26,759,384
GRCh38 1 26,432,893
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_029786.1:g.5612T>G
NC_000001.11:g.26432893T>G
NC_000001.10:g.26759384T>G
NM_205861.3:c.-53T>G
More... 		06/14/2016 5 prime utr variant uncertain significance Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:DHDDS
Accession:XM_047430859
Location:5UTRS;EXON

Gene Symbol:DHDDS
Accession:XM_047430860
Location:5UTRS;EXON

Gene Symbol:DHDDS
Accession:XM_047430865
Location:5UTRS;EXON

Gene Symbol:DHDDS
Accession:XM_047430857
Location:5UTRS;EXON

Gene Symbol:DHDDS
Accession:XM_047430850
Location:5UTRS;EXON

Gene Symbol:DHDDS
Accession:XM_047430862
Location:5UTRS;EXON

Gene Symbol:DHDDS
Accession:NM_001243564
Location:5UTRS;EXON

Gene Symbol:DHDDS
Accession:XM_047430861
Location:5UTRS;EXON

Gene Symbol:DHDDS
Accession:XM_047430852
Location:5UTRS;EXON

Gene Symbol:DHDDS
Accession:XM_047430856
Location:5UTRS;EXON

Gene Symbol:DHDDS
Accession:NM_001319959
Location:5UTRS;EXON

Gene Symbol:DHDDS
Accession:XM_047430849
Location:5UTRS;EXON

Gene Symbol:DHDDS
Accession:XM_047430864
Location:5UTRS;EXON

Gene Symbol:DHDDS
Accession:XM_047430853
Location:5UTRS;EXON

Gene Symbol:DHDDS
Accession:XM_047430851
Location:5UTRS;EXON

Gene Symbol:DHDDS
Accession:XM_047430854
Location:5UTRS;EXON

Gene Symbol:DHDDS
Accession:NM_205861
Location:5UTRS;EXON

Gene Symbol:DHDDS
Accession:NM_024887
Location:5UTRS;EXON

Gene Symbol:DHDDS
Accession:NM_001243565
Location:5UTRS;EXON

Gene Symbol:DHDDS
Accession:XM_047430863
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000264584 CLINVAR
dbSNP (RS) rs375098683 CLINVAR
MedGen C0035334 CLINVAR
NCBI Gene DHDDS CLINVAR
OMIM 268000 CLINVAR
  608172 CLINVAR
SNOMED CT 28835009 CLINVAR