RGD:28883066 Rat Genome Database

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Variant: RGD:28883066 -  Homo sapiens

RGD ID: 28883066
RS ID: rs1828181852
ClinVar ID: CV903440
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSAT1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 80,921,223
GRCh38 9 78,306,307
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012165.1:g.14165G>A
NC_000009.12:g.78306307G>A
NC_000009.11:g.80921223G>A
NM_058179.3:c.398-7G>A
More... 		01/13/2018 intron 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:INTRON

Gene Symbol:PSAT1
Accession:NM_021154
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001168098 CLINVAR
dbSNP (RS) rs1828181852 CLINVAR
MedGen C1970253 CLINVAR
NCBI Gene PSAT1 CLINVAR
OMIM 610936 CLINVAR
  610992 CLINVAR