RGD:14350997 Rat Genome Database

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Variant: RGD:14350997 -  Homo sapiens

RGD ID: 14350997
RS ID: rs142633494
ClinVar ID: CV551247
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHPS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 12,786,830
GRCh38 19 12,676,016
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001369692.1:c.785-140G>A
NC_000019.10:g.12676016C>T
NM_001930.4:c.1014+1G>A
NM_001930.3:c.1014+1G>A
More... 		12/14/2022 intron variant|splice donor variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DHPS
Accession:NM_013406
Location:INTRON

Gene Symbol:DHPS
Accession:NM_001206974
Location:INTRON

Gene Symbol:DHPS
Accession:NM_001930
Location:INTRON

Gene Symbol:DHPS
Accession:NM_001369693
Location:INTRON

Gene Symbol:DHPS
Accession:NM_001369692
Location:INTRON

Gene Symbol:DHPS
Accession:NM_001369691
Location:INTRON

Gene Symbol:DHPS
Accession:NR_161469
Location:INTRON;NON-CODING

Gene Symbol:DHPS
Accession:NR_038192
Location:INTRON;NON-CODING

Gene Symbol:DHPS
Accession:NR_161467
Location:INTRON;NON-CODING

Gene Symbol:DHPS
Accession:NR_161468
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:30661771  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000754489 CLINVAR
  RCV000786001 CLINVAR
dbSNP (RS) rs142633494 CLINVAR
MedGen C3661900 CLINVAR
  C5193119 CLINVAR
NCBI Gene DHPS CLINVAR
OMIM 600944 CLINVAR
  618480 CLINVAR
OMIM Allele 600944.0002 CLINVAR