RGD:14722961 Rat Genome Database

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Variant: RGD:14722961 -  Homo sapiens

RGD ID: 14722961
RS ID: rs112653986
ClinVar ID: CV658031
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLEKHG5  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 6,534,931
GRCh38 1 6,474,871
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020631.6:c.302+176T>C
NM_198681.4:c.302+176T>C
NM_001042663.3:c.413+176T>C
NG_007978.1:g.50139T>C
More... 		06/16/2018 intron variant benign none provided

Variant Details
Variant Transcripts
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_001042665
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001042663
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_020631
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001265592
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001265594
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000832325 CLINVAR
dbSNP (RS) rs112653986 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PLEKHG5 CLINVAR
OMIM 611101 CLINVAR