RGD:152095794 Rat Genome Database

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Variant: RGD:152095794 -  Homo sapiens

RGD ID: 152095794
RS ID: rs1243630480
ClinVar ID: CV1562009
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHDDS  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 26,786,517
GRCh38 1 26,460,026
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.32745A>G
NM_001319959.2:c.379-11A>G
NM_001243565.2:c.541-11A>G
NM_001243564.2:c.556-11A>G
More...
11/29/2021 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DHDDS
Accession:NM_024887
Location:INTRON

Gene Symbol:DHDDS
Accession:NM_205861
Location:INTRON

Gene Symbol:DHDDS
Accession:NM_001243564
Location:INTRON

Gene Symbol:DHDDS
Accession:NM_001243565
Location:INTRON

Gene Symbol:DHDDS
Accession:NM_001319959
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430849
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430853
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430859
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430863
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430851
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430856
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430850
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430854
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430861
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430864
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430852
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430857
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430862
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430865
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430860
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002194899 CLINVAR
dbSNP (RS) rs1243630480 CLINVAR
MedGen C3151227 CLINVAR
NCBI Gene DHDDS CLINVAR
OMIM 608172 CLINVAR
  613861 CLINVAR