RGD:26897217 Rat Genome Database

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Variant: RGD:26897217 -  Homo sapiens

RGD ID: 26897217
RS ID: rs1241633455
ClinVar ID: CV826508
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PREPL  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 44,571,725
GRCh38 2 44,344,586
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001374276.1:c.343G>T
NP_001361205.1:p.Val115Phe
NP_006027.2:p.Val115Phe
NP_001165084.1:p.Val26Phe
More... 		02/07/2019 missense variant uncertain significance PREPL DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PREPL
Accession:NM_001171617
Location:INTRON

Gene Symbol:PREPL
Accession:NM_006036
Location:INTRON

Gene Symbol:PREPL
Accession:XM_047446445
Location:INTRON

Gene Symbol:PREPL
Accession:NM_001171606
Location:INTRON

Gene Symbol:PREPL
Accession:XM_047446444
Location:INTRON

Gene Symbol:PREPL
Accession:XM_017005385
Location:INTRON

Gene Symbol:PREPL
Accession:XM_047446443
Location:INTRON

Gene Symbol:PREPL
Accession:NM_001042385
Location:INTRON

Gene Symbol:PREPL
Accession:NM_001171613
Location:INTRON

Gene Symbol:PREPL
Accession:XM_047446442
Location:INTRON

Gene Symbol:PREPL
Accession:XM_047446446
Location:INTRON

Gene Symbol:PREPL
Accession:NM_001374275
Location:INTRON

Gene Symbol:PREPL
Accession:NM_001171603
Location:INTRON

Gene Symbol:PREPL
Accession:XM_047446441
Location:INTRON

Gene Symbol:PREPL
Accession:NM_001374277
Location:INTRON

Gene Symbol:PREPL
Accession:NM_001374276
Location:INTRON

Gene Symbol:PREPL
Accession:NM_001042386
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001070198 CLINVAR
dbSNP (RS) rs1241633455 CLINVAR
MedGen C4479088 CLINVAR
NCBI Gene PREPL CLINVAR
OMIM 609557 CLINVAR
  616224 CLINVAR