RGD:11587970 Rat Genome Database

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Variant: RGD:11587970 -  Homo sapiens

RGD ID: 11587970
RS ID: rs530869704
ClinVar ID: CV303690
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A13  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 95,750,193
GRCh38 7 96,120,881
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
NC_000007.14:g.96120881G>A
NC_000007.13:g.95750193G>A
NM_014251.3:c.*310C>T
NG_012247.2:g.206267C>T
More... 		06/14/2016 3 prime utr variant uncertain significance all ages 1-9 / 100 000 argininosuccinate synthetase deficiency; ASS deficiency; Citrullinemia 1; Citrullinemia type 2; Classic citrullinemia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC25A13
Accession:XM_047419712
Location:3UTRS;EXON

Gene Symbol:SLC25A13
Accession:NM_014251
Location:3UTRS;EXON

Gene Symbol:SLC25A13
Accession:XM_017011663
Location:3UTRS;EXON

Gene Symbol:SLC25A13
Accession:XM_047419715
Location:3UTRS;EXON

Gene Symbol:SLC25A13
Accession:NM_001160210
Location:3UTRS;EXON

Gene Symbol:SLC25A13
Accession:NR_027662
Location:EXON;NON-CODING

Gene Symbol:SLC25A13
Accession:XM_047419713
Location:INTRON

Gene Symbol:SLC25A13
Accession:XM_047419714
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000299272 CLINVAR
  RCV000337812 CLINVAR
dbSNP (RS) rs530869704 CLINVAR
MedGen C1863844 CLINVAR
  C4721769 CLINVAR
NCBI Gene SLC25A13 CLINVAR
OMIM 215700 CLINVAR
  603859 CLINVAR