RGD:15186508 Rat Genome Database

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Variant: RGD:15186508 -  Homo sapiens

RGD ID: 15186508
RS ID: rs374770909
ClinVar ID: CV730550
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OPLAH  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 145,106,622
GRCh38 8 144,051,721
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017570.5:c.3720+8C>T
NG_032671.1:g.13961C>T
NC_000008.11:g.144051721G>A
NC_000008.10:g.145106622G>A
More... 		07/30/2021 intron variant benign|likely benign 5-alpha-oxoprolinase deficiency; Oxoprolinuria due to 5-oxoprolinase deficiency
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:OPLAH
Accession:XM_047421693
Location:INTRON

Gene Symbol:OPLAH
Accession:XM_047421690
Location:INTRON

Gene Symbol:OPLAH
Accession:XM_011516960
Location:INTRON

Gene Symbol:OPLAH
Accession:XM_047421689
Location:INTRON

Gene Symbol:OPLAH
Accession:XM_047421692
Location:INTRON

Gene Symbol:OPLAH
Accession:XM_047421688
Location:INTRON

Gene Symbol:OPLAH
Accession:XM_047421691
Location:INTRON

Gene Symbol:OPLAH
Accession:NM_017570
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001519949 CLINVAR
dbSNP (RS) rs374770909 CLINVAR
MedGen C0268525 CLINVAR
NCBI Gene OPLAH CLINVAR
OMIM 260005 CLINVAR
  614243 CLINVAR
SNOMED CT 26132002 CLINVAR