RGD:28875908 Rat Genome Database

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Variant: RGD:28875908 -  Homo sapiens

RGD ID: 28875908
RS ID: rs1828547598
ClinVar ID: CV902451
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSAT1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 80,944,221
GRCh38 9 78,329,305
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_058179.3:c.*219A>G
NC_000009.12:g.78329305A>G
NC_000009.11:g.80944221A>G
NM_021154.5:c.*219A>G
More... 		01/13/2018 3 prime utr variant uncertain significance Phosphoserine aminotransferase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PSAT1
Accession:NM_058179
Location:3UTRS;EXON

Gene Symbol:PSAT1
Accession:NM_021154
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001165979 CLINVAR
dbSNP (RS) rs1828547598 CLINVAR
MedGen C1970253 CLINVAR
NCBI Gene PSAT1 CLINVAR
OMIM 610936 CLINVAR
  610992 CLINVAR