RGD:156131975 Rat Genome Database

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Variant: RGD:156131975 -  Homo sapiens

RGD ID: 156131975
ClinVar ID: CV2097126
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PARK7  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 8,029,472
GRCh38 1 7,969,412
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001123377.2:c.252+8A>G
NM_007262.5:c.252+8A>G
NG_008271.1:g.12759A>G
NC_000001.11:g.7969412A>G
More... 		05/17/2022 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PARK7
Accession:NM_007262
Location:INTRON

Gene Symbol:PARK7
Accession:XM_005263424
Location:INTRON

Gene Symbol:PARK7
Accession:NM_001123377
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002889984 CLINVAR
MedGen C1853445 CLINVAR
NCBI Gene PARK7 CLINVAR
OMIM 602533 CLINVAR
  606324 CLINVAR