RGD:28889269 Rat Genome Database

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Variant: RGD:28889269 -  Homo sapiens

RGD ID: 28889269
RS ID: rs969539454
ClinVar ID: CV873373
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IVD  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 40,712,446
GRCh38 15 40,420,247
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001354599.3:c.*1984G>C
NM_001354601.3:c.1138+3885G>C
NG_011986.2:g.19763G>C
NC_000015.10:g.40420247G>C
More... 		01/13/2018 3 prime utr variant uncertain significance Isovaleric acid CoA dehydrogenase deficiency; Isovaleric acidemia; Isovaleryl CoA carboxylase deficiency; IVD deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IVD
Accession:NM_002225
Location:3UTRS;EXON

Gene Symbol:IVD
Accession:NM_001354599
Location:3UTRS;EXON

Gene Symbol:IVD
Accession:XM_047432464
Location:3UTRS;EXON

Gene Symbol:IVD
Accession:XM_017022155
Location:3UTRS;EXON

Gene Symbol:IVD
Accession:NM_001354597
Location:3UTRS;EXON

Gene Symbol:IVD
Accession:XM_017022154
Location:3UTRS;EXON

Gene Symbol:IVD
Accession:XM_047432463
Location:3UTRS;EXON

Gene Symbol:IVD
Accession:NM_001159508
Location:3UTRS;EXON

Gene Symbol:IVD
Accession:XR_007064441
Location:EXON;NON-CODING

Gene Symbol:IVD
Accession:XR_007064442
Location:EXON;NON-CODING

Gene Symbol:IVD
Accession:NM_001354601
Location:INTRON

Gene Symbol:IVD
Accession:XM_017022153
Location:INTRON

Gene Symbol:IVD
Accession:XM_047432460
Location:INTRON

Gene Symbol:IVD
Accession:XM_047432461
Location:INTRON

Gene Symbol:IVD
Accession:XM_006720495
Location:INTRON

Gene Symbol:IVD
Accession:XM_017022158
Location:INTRON

Gene Symbol:IVD
Accession:XM_017022149
Location:INTRON

Gene Symbol:IVD
Accession:NM_001354600
Location:INTRON

Gene Symbol:IVD
Accession:XM_017022157
Location:INTRON

Gene Symbol:IVD
Accession:XM_047432462
Location:INTRON

Gene Symbol:IVD
Accession:NM_001354598
Location:INTRON

Gene Symbol:IVD
Accession:NR_148925
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001120194 CLINVAR
dbSNP (RS) rs969539454 CLINVAR
MedGen C0268575 CLINVAR
NCBI Gene IVD CLINVAR
OMIM 243500 CLINVAR
  607036 CLINVAR
SNOMED CT 87827003 CLINVAR