RGD:152149039 Rat Genome Database

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Variant: RGD:152149039 -  Homo sapiens

RGD ID: 152149039
RS ID: rs2124432827
ClinVar ID: CV1566440
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHDDS  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 26,774,032
GRCh38 1 26,447,541
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001319959.2:c.162-18C>A
NM_001243565.2:c.324-18C>A
NM_001243564.2:c.440+1109C>A
NM_024887.4:c.441-18C>A
More... 		12/23/2020 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DHDDS
Accession:NM_205861
Location:INTRON

Gene Symbol:DHDDS
Accession:NM_001243564
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430863
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430850
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430865
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430860
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430856
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430862
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430853
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430859
Location:INTRON

Gene Symbol:DHDDS
Accession:NM_001243565
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430857
Location:INTRON

Gene Symbol:DHDDS
Accession:NM_024887
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430851
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430861
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430864
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430849
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430854
Location:INTRON

Gene Symbol:DHDDS
Accession:XM_047430852
Location:INTRON

Gene Symbol:DHDDS
Accession:NM_001319959
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002139238 CLINVAR
dbSNP (RS) rs2124432827 CLINVAR
MedGen C3151227 CLINVAR
NCBI Gene DHDDS CLINVAR
OMIM 608172 CLINVAR
  613861 CLINVAR