RGD:14731538 Rat Genome Database

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Variant: RGD:14731538 -  Homo sapiens

RGD ID: 14731538
RS ID: rs5987754
ClinVar ID: CV669788
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLS3  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 114,845,256
GRCh38 X 115,610,944
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282338.2:c.-445+621C>A
NM_001282337.2:c.7+23C>A
NM_001136025.5:c.73+621C>A
NM_001172335.3:c.73+621C>A
More... 		06/19/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PLS3
Accession:NM_001282338
Location:5UTRS;INTRON

Gene Symbol:PLS3
Accession:NM_001282337
Location:INTRON

Gene Symbol:PLS3
Accession:XM_047442168
Location:INTRON

Gene Symbol:PLS3
Accession:NM_001136025
Location:INTRON

Gene Symbol:PLS3
Accession:XM_047442170
Location:INTRON

Gene Symbol:PLS3
Accession:NM_001172335
Location:INTRON

Gene Symbol:PLS3
Accession:NM_005032
Location:INTRON

Gene Symbol:PLS3
Accession:XM_047442172
Location:INTRON

Gene Symbol:PLS3
Accession:XM_047442169
Location:INTRON

Gene Symbol:PLS3
Accession:XM_047442167
Location:INTRON

Gene Symbol:PLS3
Accession:XM_047442171
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000836173 CLINVAR
dbSNP (RS) rs5987754 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PLS3 CLINVAR
OMIM 300131 CLINVAR