RGD:12740434 Rat Genome Database

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Variant: RGD:12740434 -  Homo sapiens

RGD ID: 12740434
RS ID: rs1057516544
ClinVar ID: CV357777
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: ASS1  
Reference Nucleotide: G
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 9 133,339,497
GRCh38 9 130,464,110
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.366delG
NC_000009.12:g.130464113del
NG_011542.1:g.24407del
NC_000009.11:g.133339497del
More... 		04/12/2022 frameshift variant|splice acceptor variant pathogenic|likely pathogenic all ages 1-9 / 100 000 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_000050
Location:INTRON

Gene Symbol:ASS1
Accession:NM_054012
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:18473344   PMID:19006241   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000411991 CLINVAR
  RCV002523853 CLINVAR
dbSNP (RS) rs1057516544 CLINVAR
MedGen C0175683 CLINVAR
  C4721769 CLINVAR
NCBI Gene ASS1 CLINVAR
OMIM 215700 CLINVAR
  603470 CLINVAR
SNOMED CT 398680004 CLINVAR