RGD:11607453 Rat Genome Database

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Variant: RGD:11607453 -  Homo sapiens

RGD ID: 11607453
RS ID: rs368133957
ClinVar ID: CV317204
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ASS1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 133,329,764
GRCh38 9 130,454,377
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
NM_000050.4:c.174+4C>A
NG_011542.1:g.14671C>A
NC_000009.12:g.130454377C>A
NC_000009.11:g.133329764C>A
More... 		03/01/2018 intron variant likely benign|uncertain significance all ages 1-9 / 100 000 AllHighlyPenetrant; argininosuccinate synthetase deficiency; ASS deficiency; Citrullinemia 1; Citrullinuria; Classic citrullinemia
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Citrullinuria  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:ASS1
Accession:NM_054012
Location:INTRON

Gene Symbol:ASS1
Accession:NM_000050
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000343497 CLINVAR
  RCV000616413 CLINVAR
  RCV002523738 CLINVAR
  RCV002523739 CLINVAR
dbSNP (RS) rs368133957 CLINVAR
MedGen C0175683 CLINVAR
  C0950123 CLINVAR
  C4721769 CLINVAR
  CN169374 CLINVAR
NCBI Gene ASS1 CLINVAR
OMIM 215700 CLINVAR
  603470 CLINVAR
SNOMED CT 398680004 CLINVAR