RGD:13608183 Rat Genome Database

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Variant: RGD:13608183 -  Homo sapiens

RGD ID: 13608183
RS ID: rs766377212
ClinVar ID: CV518278
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PREPL  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 44,586,854
GRCh38 2 44,359,715
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001171617.1:c.-49+1809A>C
NM_001042385.2:c.1A>C
NM_001042386.2:c.1A>C
NG_032944.1:g.2812T>G
More... 		06/20/2022 initiatior codon variant|initiator_codon_variant|intron variant uncertain significance PREPL DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PREPL
Accession:NM_001374277
Location:5UTRS;INTRON

Gene Symbol:PREPL
Accession:NM_001171617
Location:5UTRS;INTRON

Gene Symbol:PREPL
Accession:NM_001171613
Location:5UTRS;INTRON

Gene Symbol:PREPL
Accession:XM_047446445
Location:5UTRS;INTRON

Gene Symbol:PREPL
Accession:XM_047446446
Location:5UTRS;INTRON

Gene Symbol:PREPL
Accession:NM_001374276
Location:EXON

Gene Symbol:PREPL
Accession:NM_001374275
Location:EXON

Gene Symbol:PREPL
Accession:XM_017005385
Location:EXON

Gene Symbol:PREPL
Accession:XM_047446444
Location:EXON

Gene Symbol:PREPL
Accession:NM_001042386
Location:EXON

Gene Symbol:PREPL
Accession:XM_047446443
Location:EXON

Gene Symbol:PREPL
Accession:XM_047446442
Location:EXON

Gene Symbol:PREPL
Accession:NM_001042385
Location:EXON

Gene Symbol:PREPL
Accession:XM_047446441
Location:EXON

Gene Symbol:PREPL
Accession:NM_001171603
Location:EXON

Gene Symbol:PREPL
Accession:NM_006036
Location:EXON

Gene Symbol:PREPL
Accession:NM_001171606
Location:EXON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000655736 CLINVAR
dbSNP (RS) rs766377212 CLINVAR
MedGen C4479088 CLINVAR
NCBI Gene PREPL CLINVAR
OMIM 609557 CLINVAR
  616224 CLINVAR