RGD:15140109 Rat Genome Database

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Variant: RGD:15140109 -  Homo sapiens

RGD ID: 15140109
RS ID: rs1206783802
ClinVar ID: CV759175
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PREPL  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 44,566,510
GRCh38 2 44,339,371
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001171606.2:c.753-8C>G
NM_001171613.2:c.486-8C>G
NM_001171617.1:c.486-8C>G
NM_001374277.1:c.486-8C>G
More... 		05/31/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PREPL
Accession:NM_006036
Location:INTRON

Gene Symbol:PREPL
Accession:XM_017005385
Location:INTRON

Gene Symbol:PREPL
Accession:XM_047446444
Location:INTRON

Gene Symbol:PREPL
Accession:NM_001171613
Location:INTRON

Gene Symbol:PREPL
Accession:NM_001374275
Location:INTRON

Gene Symbol:PREPL
Accession:NM_001171603
Location:INTRON

Gene Symbol:PREPL
Accession:NM_001042385
Location:INTRON

Gene Symbol:PREPL
Accession:NM_001042386
Location:INTRON

Gene Symbol:PREPL
Accession:NM_001374276
Location:INTRON

Gene Symbol:PREPL
Accession:XM_047446442
Location:INTRON

Gene Symbol:PREPL
Accession:NM_001171617
Location:INTRON

Gene Symbol:PREPL
Accession:NM_001171606
Location:INTRON

Gene Symbol:PREPL
Accession:XM_047446446
Location:INTRON

Gene Symbol:PREPL
Accession:XM_047446441
Location:INTRON

Gene Symbol:PREPL
Accession:NM_001374277
Location:INTRON

Gene Symbol:PREPL
Accession:XM_047446443
Location:INTRON

Gene Symbol:PREPL
Accession:XM_047446445
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000921624 CLINVAR
dbSNP (RS) rs1206783802 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PREPL CLINVAR
OMIM 609557 CLINVAR