RGD:28876158 Rat Genome Database

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Variant: RGD:28876158 -  Homo sapiens

RGD ID: 28876158
RS ID: rs563156422
ClinVar ID: CV901185
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ASS1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 133,320,110
GRCh38 9 130,444,723
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000050.4:c.-340G>T
NG_011542.1:g.5017G>T
NC_000009.12:g.130444723G>T
NC_000009.11:g.133320110G>T
More... 		01/12/2018 5 prime utr variant uncertain significance 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:5UTRS;EXON

Gene Symbol:ASS1
Accession:NM_054012
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001166066 CLINVAR
dbSNP (RS) rs563156422 CLINVAR
MedGen C4721769 CLINVAR
NCBI Gene ASS1 CLINVAR
OMIM 215700 CLINVAR
  603470 CLINVAR