RGD:40815385 Rat Genome Database

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Variant: RGD:40815385 -  Homo sapiens

RGD ID: 40815385
RS ID: rs200959967
ClinVar ID: CV970759
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDCD10  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 167,413,338
GRCh38 3 167,695,550
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000003.12:g.167695550G>A
NC_000003.11:g.167413338G>A
NM_007217.4:c.395+46C>T
NM_145859.2:c.395+46C>T
More... 		01/01/2019 intron variant likely benign Cerebral cavernous malformations 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PDCD10
Accession:XM_047447374
Location:INTRON

Gene Symbol:PDCD10
Accession:NM_145860
Location:INTRON

Gene Symbol:PDCD10
Accession:XM_005247087
Location:INTRON

Gene Symbol:PDCD10
Accession:XM_005247088
Location:INTRON

Gene Symbol:PDCD10
Accession:XM_006713485
Location:INTRON

Gene Symbol:PDCD10
Accession:XM_017005644
Location:INTRON

Gene Symbol:PDCD10
Accession:XM_005247086
Location:INTRON

Gene Symbol:PDCD10
Accession:XM_011512368
Location:INTRON

Gene Symbol:PDCD10
Accession:XM_047447375
Location:INTRON

Gene Symbol:PDCD10
Accession:XM_011512369
Location:INTRON

Gene Symbol:PDCD10
Accession:NM_145859
Location:INTRON

Gene Symbol:PDCD10
Accession:NM_007217
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001262731 CLINVAR
dbSNP (RS) rs200959967 CLINVAR
MedGen C1864040 CLINVAR
NCBI Gene PDCD10 CLINVAR
OMIM 603285 CLINVAR
  609118 CLINVAR