RGD:28883950 Rat Genome Database

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Variant: RGD:28883950 -  Homo sapiens

RGD ID: 28883950
RS ID: rs1846749628
ClinVar ID: CV901191
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ASS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 133,376,652
GRCh38 9 130,501,265
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.130501265T>C
NC_000009.11:g.133376652T>C
NM_054012.3:c.*244T>C
NM_000050.4:c.*244T>C
More... 		01/12/2018 3 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:3UTRS;EXON

Gene Symbol:ASS1
Accession:NM_054012
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001168357 CLINVAR
dbSNP (RS) rs1846749628 CLINVAR
MedGen C4721769 CLINVAR
NCBI Gene ASS1 CLINVAR
OMIM 215700 CLINVAR
  603470 CLINVAR