RGD:12906757 Rat Genome Database

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Variant: RGD:12906757 -  Homo sapiens

RGD ID: 12906757
RS ID: rs764356037
ClinVar ID: CV415109
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ASL  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 65,554,322
GRCh38 7 66,089,335
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001024946.2:c.900G>C
NG_009288.1:g.18547G>C
NC_000007.14:g.66089335G>C
NC_000007.13:g.65554322G>C
More...
06/28/2018 intron variant pathogenic|likely pathogenic Arginino succinase deficiency; Argininosuccinate acidemia; Argininosuccinic acid lyase deficiency; Argininosuccinic Aciduria; ASA deficiency; ASL deficiency; Inborn error of urea synthesis, arginino succinic type; none provided; Urea cycle disorder, arginino succinase type
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:ASL
Accession:NM_000048
Location:INTRON

Gene Symbol:ASL
Accession:NM_001024943
Location:INTRON

Gene Symbol:ASL
Accession:NM_001024944
Location:INTRON

Gene Symbol:ASL
Accession:NM_001024946
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:24166829   PMID:25741868   PMID:28492532   PMID:30285816  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000489610 CLINVAR
  RCV001836830 CLINVAR
dbSNP (RS) rs764356037 CLINVAR
MedGen C0268547 CLINVAR
  C3661900 CLINVAR
NCBI Gene ASL CLINVAR
OMIM 207900 CLINVAR
  608310 CLINVAR
SNOMED CT 41013004 CLINVAR