RGD:14707609 Rat Genome Database

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Variant: RGD:14707609 -  Homo sapiens

RGD ID: 14707609
RS ID: rs376487148
ClinVar ID: CV649439
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DEPDC5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 32,269,318
GRCh38 22 31,873,332
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000022.10:g.32269318C>T
NR_157128.1:n.3703C>T
NP_001229826.1:p.Ser1088Leu
NP_001350783.1:p.Ser1110Leu
More... 		06/07/2019 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DEPDC5
Accession:XM_047441634
Location:3UTRS;INTRON

Gene Symbol:DEPDC5
Accession:XM_011530561
Location:INTRON

Gene Symbol:DEPDC5
Accession:XM_017029113
Location:INTRON

Gene Symbol:DEPDC5
Accession:NM_001364320
Location:INTRON

Gene Symbol:DEPDC5
Accession:NM_001364319
Location:INTRON

Gene Symbol:DEPDC5
Accession:XM_047441625
Location:INTRON

Gene Symbol:DEPDC5
Accession:XM_047441630
Location:INTRON

Gene Symbol:DEPDC5
Accession:NM_001363854
Location:INTRON

Gene Symbol:DEPDC5
Accession:XM_047441628
Location:INTRON

Gene Symbol:DEPDC5
Accession:NM_001242896
Location:INTRON

Gene Symbol:DEPDC5
Accession:XM_047441626
Location:INTRON

Gene Symbol:DEPDC5
Accession:NM_001136029
Location:INTRON

Gene Symbol:DEPDC5
Accession:XM_017029114
Location:INTRON

Gene Symbol:DEPDC5
Accession:XM_047441629
Location:INTRON

Gene Symbol:DEPDC5
Accession:XM_011530557
Location:INTRON

Gene Symbol:DEPDC5
Accession:XM_047441632
Location:INTRON

Gene Symbol:DEPDC5
Accession:XM_011530569
Location:INTRON

Gene Symbol:DEPDC5
Accession:NM_001007188
Location:INTRON

Gene Symbol:DEPDC5
Accession:XM_011530565
Location:INTRON

Gene Symbol:DEPDC5
Accession:NM_001364318
Location:INTRON

Gene Symbol:DEPDC5
Accession:NM_001369901
Location:INTRON

Gene Symbol:DEPDC5
Accession:XM_047441637
Location:INTRON

Gene Symbol:DEPDC5
Accession:NM_001369903
Location:INTRON

Gene Symbol:DEPDC5
Accession:XM_047441635
Location:INTRON

Gene Symbol:DEPDC5
Accession:XM_024452305
Location:INTRON

Gene Symbol:DEPDC5
Accession:XM_047441636
Location:INTRON

Gene Symbol:DEPDC5
Accession:XM_047441631
Location:INTRON

Gene Symbol:DEPDC5
Accession:NM_001369902
Location:INTRON

Gene Symbol:DEPDC5
Accession:XM_047441633
Location:INTRON

Gene Symbol:DEPDC5
Accession:NM_014662
Location:INTRON

Gene Symbol:DEPDC5
Accession:XM_011530563
Location:INTRON

Gene Symbol:DEPDC5
Accession:XM_011530562
Location:INTRON

Gene Symbol:DEPDC5
Accession:NM_001363852
Location:INTRON

Gene Symbol:DEPDC5
Accession:NM_001242897
Location:INTRON

Gene Symbol:DEPDC5
Accession:XM_047441627
Location:INTRON

Gene Symbol:DEPDC5
Accession:NR_110988
Location:INTRON;NON-CODING

Gene Symbol:DEPDC5
Accession:NR_157125
Location:INTRON;NON-CODING

Gene Symbol:DEPDC5
Accession:NR_157126
Location:INTRON;NON-CODING

Gene Symbol:DEPDC5
Accession:NR_157128
Location:INTRON;NON-CODING

Gene Symbol:DEPDC5
Accession:XR_007067997
Location:INTRON;NON-CODING

Gene Symbol:DEPDC5
Accession:NR_146296
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000796396 CLINVAR
dbSNP (RS) rs376487148 CLINVAR
MedGen C1858477 CLINVAR
NCBI Gene DEPDC5 CLINVAR
OMIM 604364 CLINVAR
  614191 CLINVAR