RGD:28910834 Rat Genome Database

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Variant: RGD:28910834 -  Homo sapiens

RGD ID: 28910834
RS ID: rs1046827974
ClinVar ID: CV870627
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GGACT  LOC127826788  PCCA  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 13 101,182,643
GRCh38 13 100,530,389
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000282.4:c.*223T>G
NM_001352605.2:c.*223T>G
NM_001352606.2:c.*223T>G
NM_001352607.2:c.*223T>G
More... 		01/13/2018 3 prime utr variant uncertain significance Glycinemia, ketotic; Hyperglycinemia with ketoacidosis and leukopenia; Ketotic hyperglycinemia
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PCCA
Accession:NM_001352607
Location:3UTRS;EXON

Gene Symbol:GGACT
Accession:XM_047430708
Location:3UTRS;EXON

Gene Symbol:GGACT
Accession:NM_001195087
Location:3UTRS;EXON

Gene Symbol:PCCA
Accession:XM_017020613
Location:3UTRS;EXON

Gene Symbol:PCCA
Accession:NM_001352606
Location:3UTRS;EXON

Gene Symbol:PCCA
Accession:NM_000282
Location:3UTRS;EXON

Gene Symbol:PCCA
Accession:NM_001352605
Location:3UTRS;EXON

Gene Symbol:PCCA
Accession:NM_001352612
Location:3UTRS;EXON

Gene Symbol:PCCA
Accession:NM_001178004
Location:3UTRS;EXON

Gene Symbol:GGACT
Accession:NM_033110
Location:3UTRS;EXON

Gene Symbol:PCCA
Accession:NM_001352608
Location:3UTRS;EXON

Gene Symbol:PCCA
Accession:NM_001127692
Location:3UTRS;EXON

Gene Symbol:PCCA
Accession:XM_017020609
Location:3UTRS;EXON

Gene Symbol:GGACT
Accession:XM_011521129
Location:3UTRS;EXON

Gene Symbol:PCCA
Accession:XM_047430373
Location:3UTRS;EXON

Gene Symbol:PCCA
Accession:XM_047430371
Location:3UTRS;EXON

Gene Symbol:PCCA
Accession:NM_001352610
Location:3UTRS;EXON

Gene Symbol:PCCA
Accession:NM_001352611
Location:3UTRS;EXON

Gene Symbol:PCCA
Accession:NR_148029
Location:EXON;NON-CODING

Gene Symbol:PCCA
Accession:NR_148030
Location:EXON;NON-CODING

Gene Symbol:PCCA
Accession:NR_148028
Location:EXON;NON-CODING

Gene Symbol:PCCA
Accession:NR_148031
Location:EXON;NON-CODING

Gene Symbol:PCCA
Accession:NR_148027
Location:EXON;NON-CODING

Gene Symbol:PCCA
Accession:XM_017020611
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430372
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020615
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020616
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020612
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020607
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430378
Location:INTRON

Gene Symbol:PCCA
Accession:XM_011521093
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020605
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020606
Location:INTRON

Gene Symbol:PCCA
Accession:NM_001352609
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430375
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430370
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430376
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430374
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430377
Location:INTRON

Gene Symbol:PCCA
Accession:XR_007063681
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001109516 CLINVAR
dbSNP (RS) rs1046827974 CLINVAR
MedGen C0268579 CLINVAR
NCBI Gene GGACT CLINVAR
  PCCA CLINVAR
OMIM 232000 CLINVAR
  606054 CLINVAR
  613378 CLINVAR