RGD:14718585 Rat Genome Database

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Variant: RGD:14718585 -  Homo sapiens

RGD ID: 14718585
RS ID: rs4594494
ClinVar ID: CV659257
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRPPRC  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 44,177,454
GRCh38 2 43,950,315
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_133259.4:c.1677+258A>G
NG_008247.1:g.50691A>G
NC_000002.12:g.43950315T>C
NC_000002.11:g.44177454T>C
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:LRPPRC
Accession:XM_006711915
Location:INTRON

Gene Symbol:LRPPRC
Accession:NM_133259
Location:INTRON

Gene Symbol:LRPPRC
Accession:XM_047442809
Location:INTRON

Gene Symbol:LRPPRC
Accession:XM_006711916
Location:INTRON

Gene Symbol:LRPPRC
Accession:XR_007068563
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000830439 CLINVAR
dbSNP (RS) rs4594494 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LRPPRC CLINVAR
OMIM 607544 CLINVAR