RGD:156448721 Rat Genome Database

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Variant: RGD:156448721 -  Homo sapiens

RGD ID: 156448721
ClinVar ID: CV2402131
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLEKHG3  SPTB  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 65,216,356
GRCh38 14 64,749,638
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1130t1:c.6819+16C>G
NM_001308147.2:c.*5935G>C
NM_001024858.4:c.6819+16C>G
NM_001355436.2:c.6819+16C>G
More... 		03/31/2022 3 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PLEKHG3
Accession:NM_001308147
Location:3UTRS;EXON

Gene Symbol:SPTB
Accession:XM_011537105
Location:INTRON

Gene Symbol:SPTB
Accession:XM_047431724
Location:INTRON

Gene Symbol:SPTB
Accession:NM_001024858
Location:INTRON

Gene Symbol:SPTB
Accession:NM_001355436
Location:INTRON

Gene Symbol:SPTB
Accession:NM_001355437
Location:INTRON

Gene Symbol:SPTB
Accession:XM_017021612
Location:INTRON

Gene Symbol:SPTB
Accession:XM_047431725
Location:INTRON

Gene Symbol:SPTB
Accession:XM_024449699
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003120290 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PLEKHG3 CLINVAR
  SPTB CLINVAR
OMIM 182870 CLINVAR
  617940 CLINVAR