RGD:28869925 Rat Genome Database

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Variant: RGD:28869925 -  Homo sapiens

RGD ID: 28869925
RS ID: rs369564645
ClinVar ID: CV900422
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A13  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 95,926,267
GRCh38 7 96,296,955
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014251.3:c.16-4A>G
NG_012247.2:g.30193A>G
NC_000007.14:g.96296955T>C
NC_000007.13:g.95926267T>C
More... 		01/12/2018 intron variant uncertain significance Citrullinemia type 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC25A13
Accession:XM_017011663
Location:INTRON

Gene Symbol:SLC25A13
Accession:XM_047419712
Location:INTRON

Gene Symbol:SLC25A13
Accession:XM_047419715
Location:INTRON

Gene Symbol:SLC25A13
Accession:XM_047419713
Location:INTRON

Gene Symbol:SLC25A13
Accession:NM_001160210
Location:INTRON

Gene Symbol:SLC25A13
Accession:XM_047419714
Location:INTRON

Gene Symbol:SLC25A13
Accession:NM_014251
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001163310 CLINVAR
dbSNP (RS) rs369564645 CLINVAR
MedGen C1863844 CLINVAR
NCBI Gene SLC25A13 CLINVAR
OMIM 603859 CLINVAR