RGD:13541745 Rat Genome Database

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Variant: RGD:13541745 -  Homo sapiens

RGD ID: 13541745
RS ID: rs187554010
ClinVar ID: CV505108
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCCA  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 100,809,605
GRCh38 13 100,157,351
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001352610.2:c.-399+11A>C
NM_001352611.2:c.-399+11A>C
NM_001352612.2:c.-399+11A>C
NM_001352605.2:c.468+11A>C
More... 		10/14/2020 intron variant benign|likely benign AllHighlyPenetrant; 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_001352611
Location:5UTRS;INTRON

Gene Symbol:PCCA
Accession:NM_001352612
Location:5UTRS;INTRON

Gene Symbol:PCCA
Accession:NM_001352610
Location:5UTRS;INTRON

Gene Symbol:PCCA
Accession:XM_017020615
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020609
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020607
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430375
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020613
Location:INTRON

Gene Symbol:PCCA
Accession:NM_001352608
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020612
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020606
Location:INTRON

Gene Symbol:PCCA
Accession:NM_001352606
Location:INTRON

Gene Symbol:PCCA
Accession:NM_001352607
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430376
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020605
Location:INTRON

Gene Symbol:PCCA
Accession:NM_001127692
Location:INTRON

Gene Symbol:PCCA
Accession:NM_001352605
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430370
Location:INTRON

Gene Symbol:PCCA
Accession:XM_011521093
Location:INTRON

Gene Symbol:PCCA
Accession:NM_001352609
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430372
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430374
Location:INTRON

Gene Symbol:PCCA
Accession:NM_001178004
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020611
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430371
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430378
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430373
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430377
Location:INTRON

Gene Symbol:PCCA
Accession:NM_000282
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020616
Location:INTRON

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

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000616588 CLINVAR
  RCV001516593 CLINVAR
dbSNP (RS) rs187554010 CLINVAR
MedGen C0268579 CLINVAR
  CN169374 CLINVAR
NCBI Gene PCCA CLINVAR
OMIM 232000 CLINVAR
  606054 CLINVAR