RGD:12842312 Rat Genome Database

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Variant: RGD:12842312 -  Homo sapiens

RGD ID: 12842312
RS ID: rs200700775
ClinVar ID: CV369903
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ASL  LOC127409360  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 65,551,661
GRCh38 7 66,086,674
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009288.1:g.15886G>T
NC_000007.14:g.66086674G>T
NC_000007.13:g.65551661G>T
NM_000048.4:c.524+12G>T
More...
07/19/2016 intron variant likely benign AllHighlyPenetrant; Arginino succinase deficiency; Argininosuccinate acidemia; Argininosuccinic acid lyase deficiency; Argininosuccinic Aciduria; ASA deficiency; ASL deficiency; Inborn error of urea synthesis, arginino succinic type; 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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000434168 CLINVAR
  RCV002059735 CLINVAR
dbSNP (RS) rs200700775 CLINVAR
MedGen C0268547 CLINVAR
  CN169374 CLINVAR
NCBI Gene ASL CLINVAR
OMIM 207900 CLINVAR
  608310 CLINVAR
SNOMED CT 41013004 CLINVAR