RGD:12846832 Rat Genome Database

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Variant: RGD:12846832 -  Homo sapiens

RGD ID: 12846832
RS ID: rs779816604
ClinVar ID: CV367293
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRPPRC  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 44,177,694
GRCh38 2 43,950,555
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008247.1:g.50451T>A
NC_000002.12:g.43950555A>T
NC_000002.11:g.44177694A>T
NM_133259.4:c.1677+18T>A
More... 		10/03/2016 intron variant likely benign AllHighlyPenetrant; 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_006711916
Location:INTRON

Gene Symbol:LRPPRC
Accession:XM_047442809
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000442399 CLINVAR
  RCV003766380 CLINVAR
dbSNP (RS) rs779816604 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene LRPPRC CLINVAR
OMIM 607544 CLINVAR