RGD:13784014 Rat Genome Database

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Variant: RGD:13784014 -  Homo sapiens

RGD ID: 13784014
RS ID: rs1554982809
ClinVar ID: CV544680
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ASS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 133,333,787
GRCh38 9 130,458,400
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011542.1:g.18694G>A
NM_000050.4:c.175-1G>A
NM_054012.4:c.175-1G>A
NC_000009.12:g.130458400G>A
More... 		11/03/2017 splice acceptor variant likely pathogenic argininosuccinate synthetase deficiency; ASS deficiency; Citrullinemia 1; Classic citrullinemia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ASS1
Accession:NM_000050
Location:INTRON

Gene Symbol:ASS1
Accession:NM_054012
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000670490 CLINVAR
dbSNP (RS) rs1554982809 CLINVAR
MedGen C4721769 CLINVAR
NCBI Gene ASS1 CLINVAR
OMIM 215700 CLINVAR
  603470 CLINVAR