RGD:151880557 Rat Genome Database

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Variant: RGD:151880557 -  Homo sapiens

RGD ID: 151880557
RS ID: rs2146819053
ClinVar ID: CV1436996
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HPS4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 26,868,907
GRCh38 22 26,472,941
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_590t2:c.262-2A>G
NM_152841.2:c.262-2A>G
NM_001349896.1:c.277-2A>G
NM_001349898.2:c.277-2A>G
More... 		07/22/2021 splice acceptor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:HPS4
Accession:NM_022081
Location:INTRON

Gene Symbol:HPS4
Accession:NM_152841
Location:INTRON

Gene Symbol:HPS4
Accession:XM_011530490
Location:INTRON

Gene Symbol:HPS4
Accession:XM_011530486
Location:INTRON

Gene Symbol:HPS4
Accession:XM_011530495
Location:INTRON

Gene Symbol:HPS4
Accession:XM_011530496
Location:INTRON

Gene Symbol:HPS4
Accession:XM_017029046
Location:INTRON

Gene Symbol:HPS4
Accession:XM_017029053
Location:INTRON

Gene Symbol:HPS4
Accession:NM_001349905
Location:INTRON

Gene Symbol:HPS4
Accession:NM_001349904
Location:INTRON

Gene Symbol:HPS4
Accession:NM_001349902
Location:INTRON

Gene Symbol:HPS4
Accession:NM_001349896
Location:INTRON

Gene Symbol:HPS4
Accession:NM_001349901
Location:INTRON

Gene Symbol:HPS4
Accession:NM_001349899
Location:INTRON

Gene Symbol:HPS4
Accession:NM_001349903
Location:INTRON

Gene Symbol:HPS4
Accession:NM_001349900
Location:INTRON

Gene Symbol:HPS4
Accession:NM_001349898
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441572
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441580
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441579
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441574
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441571
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441578
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441573
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441576
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441583
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441564
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441563
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441582
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441577
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441561
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441575
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441581
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441562
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441584
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441568
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441566
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441567
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441565
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441569
Location:INTRON

Gene Symbol:HPS4
Accession:NM_001410832
Location:INTRON

Gene Symbol:HPS4
Accession:NR_073135
Location:INTRON;NON-CODING

Gene Symbol:HPS4
Accession:NR_073136
Location:INTRON;NON-CODING

Gene Symbol:HPS4
Accession:XR_001755361
Location:INTRON;NON-CODING

Gene Symbol:HPS4
Accession:XR_001755364
Location:INTRON;NON-CODING

Gene Symbol:HPS4
Accession:NR_146312
Location:INTRON;NON-CODING

Gene Symbol:HPS4
Accession:NR_146314
Location:INTRON;NON-CODING

Gene Symbol:HPS4
Accession:NR_146313
Location:INTRON;NON-CODING

Gene Symbol:HPS4
Accession:NR_146316
Location:INTRON;NON-CODING

Gene Symbol:HPS4
Accession:NR_146315
Location:INTRON;NON-CODING

Gene Symbol:HPS4
Accession:NR_146311
Location:INTRON;NON-CODING

Gene Symbol:HPS4
Accession:XR_007067985
Location:INTRON;NON-CODING

Gene Symbol:HPS4
Accession:XR_007067983
Location:INTRON;NON-CODING

Gene Symbol:HPS4
Accession:XR_007067986
Location:INTRON;NON-CODING

Gene Symbol:HPS4
Accession:XR_007067987
Location:INTRON;NON-CODING

Gene Symbol:HPS4
Accession:XR_007067984
Location:INTRON;NON-CODING

Gene Symbol:HPS4
Accession:XR_007067989
Location:INTRON;NON-CODING

Gene Symbol:HPS4
Accession:XR_007067988
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:12664304   PMID:16199547   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001999503 CLINVAR
dbSNP (RS) rs2146819053 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HPS4 CLINVAR
OMIM 606682 CLINVAR