RGD:12841368 Rat Genome Database

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Variant: RGD:12841368 -  Homo sapiens

RGD ID: 12841368
RS ID: rs1057523000
ClinVar ID: CV365382
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLEKHG5  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 6,529,095
GRCh38 1 6,469,035
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_198681.4:c.2249+7C>G
NM_001042663.3:c.2360+7C>G
NM_001265592.2:c.2360+7C>G
NG_029910.1:g.2161C>G
More... 		07/27/2016 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PLEKHG5
Accession:NM_001265592
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_198681
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001042665
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001265594
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_020631
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001042663
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001265593
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001042664
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000432447 CLINVAR
dbSNP (RS) rs1057523000 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PLEKHG5 CLINVAR
OMIM 611101 CLINVAR