RGD:8558653 Rat Genome Database

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Variant: RGD:8558653 -  Homo sapiens

RGD ID: 8558653
RS ID: rs121918307
ClinVar ID: CV20425
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RRM2B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 103,225,057
GRCh38 8 102,212,829
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NM_001172477.1:c.1066C>T
NG_016617.1:g.31290C>T
NC_000008.11:g.102212829G>A
NC_000008.10:g.103225057G>A
More... 		04/17/2014 nonsense|stop-gain pathogenic|not provided 1-9 / 1 000 000 MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy; MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RRM2B
Accession:NM_001172477
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 356
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLRLPPHRSHASPLDCKLQDRCRKCYSPRSGQACPPALAAAWLRRCERRGGRPRGGRRKELTLGLRPARCSAPGPAKD
DAWRPQAGRSSSDTNESEIKSNEEPLLRKSSRRFVIFPIQYPDIWKMYKQAQASFWTAEEVDLSKDLPHWNKLKADEKYF
ISHILAFFAASDGIVNENLVERFSQEVQVPEARCFYGFQILIENVHSEMYSLLIDTYIRDPKKREFLFNAIETMPYVKKK
ADWALRWIADRKSTFGERVVAFAAVEGVFFSGSFAAIFWLKKRGLMPGLTFSNELISRDEGLHCDFACLMFQYLVNKPSE
ERVREIIVDAVKIEQEFLTEALPVGLIGMNCILMK*YIEFVADRLLVELGFSKVFQAENPFDFMENISLEGKTNFFEKRV
SEYQRFAVMAETTDNVFTLDADF*

Gene Symbol:RRM2B
Accession:NM_015713
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDPERPEAAGLDQDERSSSDTNESEIKSNEEPLLRKSSRRFVIFPIQYPDIWKMYKQAQASFWTAEEVDLSKDLPHWNK
LKADEKYFISHILAFFAASDGIVNENLVERFSQEVQVPEARCFYGFQILIENVHSEMYSLLIDTYIRDPKKREFLFNAIE
TMPYVKKKADWALRWIADRKSTFGERVVAFAAVEGVFFSGSFAAIFWLKKRGLMPGLTFSNELISRDEGLHCDFACLMFQ
YLVNKPSEERVREIIVDAVKIEQEFLTEALPVGLIGMNCILMK*YIEFVADRLLVELGFSKVFQAENPFDFMENISLEGK
TNFFEKRVSEYQRFAVMAETTDNVFTLDADF*

Gene Symbol:RRM2B
Accession:NM_001172478
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 232
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDPERPEAAGLDQDEVDLSKDLPHWNKLKADEKYFISHILAFFAASDGIVNENLVERFSQEVQVPEARCFYGFQILIEN
VHSEMYSLLIDTYIRDPKKREFLFNAIETMPYVKKKADWALRWIADRKSTFGERVVAFAAVEGVFFSGSFAAIFWLKKRG
LMPGLTFSNELISRDEGLHCDFACLMFQYLVNKPSEERVREIIVDAVKIEQEFLTEALPVGLIGMNCILMK*YIEFVADR
LLVELGFSKVFQAENPFDFMENISLEGKTNFFEKRVSEYQRFAVMAETTDNVFTLDADF*
Variant Samples
Additional References at PubMed
PMID:17486094   PMID:24741716  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000005717 CLINVAR
  RCV000119010 CLINVAR
dbSNP (RS) rs121918307 CLINVAR
MedGen C2749861 CLINVAR
  CN187502 CLINVAR
NCBI Gene RRM2B CLINVAR
OMIM 604712 CLINVAR
  612075 CLINVAR
OMIM Allele 604712.0001 CLINVAR