RGD:156400505 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:156400505 -  Homo sapiens

RGD ID: 156400505
ClinVar ID: CV1982262
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDCD10  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 167,413,509
GRCh38 3 167,695,721
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_651p1:p.Glu90=
LRG_651t1:c.270G>A
NM_007217.4:c.270G>A
NM_145859.2:c.270G>A
More...
12/12/2021 synonymous variant likely benign Cerebral cavernous malformations 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PDCD10
Accession:NM_145859
Location:EXON

Gene Symbol:PDCD10
Accession:NM_145860
Location:EXON

Gene Symbol:PDCD10
Accession:XM_005247087
Location:EXON

Gene Symbol:PDCD10
Accession:XM_005247086
Location:EXON

Gene Symbol:PDCD10
Accession:XM_047447375
Location:EXON

Gene Symbol:PDCD10
Accession:XM_005247088
Location:EXON

Gene Symbol:PDCD10
Accession:XM_011512368
Location:EXON

Gene Symbol:PDCD10
Accession:NM_007217
Location:EXON

Gene Symbol:PDCD10
Accession:XM_006713485
Location:EXON

Gene Symbol:PDCD10
Accession:XM_011512369
Location:EXON

Gene Symbol:PDCD10
Accession:XM_047447374
Location:EXON

Gene Symbol:PDCD10
Accession:XM_017005644
Location:EXON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002635922 CLINVAR
MedGen C1864040 CLINVAR
NCBI Gene PDCD10 CLINVAR
OMIM 603285 CLINVAR
  609118 CLINVAR