RGD:11600804 Rat Genome Database

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Variant: RGD:11600804 -  Homo sapiens

RGD ID: 11600804
RS ID: rs17064358
ClinVar ID: CV308848
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSAT1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 80,944,254
GRCh38 9 78,329,338
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012165.1:g.37196G>C
NC_000009.12:g.78329338G>C
NC_000009.11:g.80944254G>C
NM_021154.5:c.*252G>C
More... 		01/13/2018 3 prime utr variant benign|likely benign infancy <1 / 1 000 000 Phosphoserine aminotransferase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PSAT1
Accession:NM_021154
Location:3UTRS;EXON

Gene Symbol:PSAT1
Accession:NM_058179
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000276677 CLINVAR
dbSNP (RS) rs17064358 CLINVAR
MedGen C1970253 CLINVAR
NCBI Gene PSAT1 CLINVAR
OMIM 610936 CLINVAR
  610992 CLINVAR