RGD:155993180 Rat Genome Database

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Variant: RGD:155993180 -  Homo sapiens

RGD ID: 155993180
ClinVar ID: CV2049920
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HPS3  LOC127398944  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 148,847,735
GRCh38 3 149,129,948
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_563t1:c.217+8A>G
NM_001308258.2:c.217+8A>G
NM_032383.5:c.217+8A>G
LRG_563:g.5365A>G
More... 		05/17/2022 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:HPS3
Accession:NM_032383
Location:INTRON

Gene Symbol:HPS3
Accession:NM_001308258
Location:INTRON

Gene Symbol:HPS3
Accession:XM_005247834
Location:INTRON

Gene Symbol:HPS3
Accession:XM_047449064
Location:INTRON

Gene Symbol:HPS3
Accession:XR_001740328
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002819300 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HPS3 CLINVAR
OMIM 606118 CLINVAR