RGD:13539577 Rat Genome Database

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Variant: RGD:13539577 -  Homo sapiens

RGD ID: 13539577
RS ID: rs1553173486
ClinVar ID: CV498593
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLEKHG5  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 6,529,318
GRCh38 1 6,469,258
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_262:g.55752C>A
NG_007978.1:g.55752C>A
NC_000001.11:g.6469258G>T
NC_000001.10:g.6529318G>T
More... 		03/14/2017 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PLEKHG5
Accession:NM_001042663
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001042665
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001265594
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_198681
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001265593
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001042664
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001265592
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_020631
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000613475 CLINVAR
dbSNP (RS) rs1553173486 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PLEKHG5 CLINVAR
OMIM 611101 CLINVAR