RGD:8556689 Rat Genome Database

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Variant: RGD:8556689 -  Homo sapiens

RGD ID: 8556689
RS ID: rs121434383
ClinVar ID: CV17240
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VPS33B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 91,543,193
GRCh38 15 90,999,963
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012162.1:g.27641C>T
NC_000015.10:g.90999963G>A
NC_000015.9:g.91543193G>A
NP_061138.3:p.Arg532Ter
More... 		09/01/2023 nonsense|stop-gain pathogenic neonatal/infancy <1 / 1 000 000 none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:VPS33B
Accession:XM_047432383
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 441
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRYIASLVNADKLAGRTRKYKVIFSPQKFYACEMVLEEEGIYGDVSCDEWAFSLLPLDVDLLSMELPEFFRDYFLEGDQR
WINTVAQALHLLSTLYGPFPNCYGIGRCAKMAYELWRNLEEEEDGETKGRRPEIGHIFLLDRDVDFVTALCSQVVYEGLV
DDTFRIKCGSVDFGPEVTSSDKSLKVLLNAEDKVFNEIRNEHFSNVFGFLSQKARNLQAQYDRRRGMDIKQMKNFVSQEL
KGLKQEHRLLSLHIGACESIMKKKTKQDFQELIKTEHALLEGFNIRESTSYIEEHIDRQVSPIESLRLMCLLSITENGLI
PKDYRSLKTQYLQSYGPEHLLTFSNLRRAGLLTEQAPGDTLTAVESKVSKLVTDKAAGKITDAFSSLAKRSNFRAISKKL
NLIPRVDGEYDLKVPRDMAYVFGGAYVPLSCRIIEQVLER*SWQGLDEVVRLLNCSDFAFTDMTKEDKASSESLRLILVV
FLGGCTFSEISALRFLGREKGYRFIFLTTAVTNSARLMEAMSEVKA*

Gene Symbol:VPS33B
Accession:NM_001289149
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 441
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRYIASLVNADKLAGRTRKYKVIFSPQKFYACEMVLEEEGIYGDVSCDEWAFSLLPLDVDLLSMELPEFFRDYFLEGDQR
WINTVAQALHLLSTLYGPFPNCYGIGRCAKMAYELWRNLEEEEDGETKGRRPEIGHIFLLDRDVDFVTALCSQVVYEGLV
DDTFRIKCGSVDFGPEVTSSDKSLKVLLNAEDKVFNEIRNEHFSNVFGFLSQKARNLQAQYDRRRGMDIKQMKNFVSQEL
KGLKQEHRLLSLHIGACESIMKKKTKQDFQELIKTEHALLEGFNIRESTSYIEEHIDRQVSPIESLRLMCLLSITENGLI
PKDYRSLKTQYLQSYGPEHLLTFSNLRRAGLLTEQAPGDTLTAVESKVSKLVTDKAAGKITDAFSSLAKRSNFRAISKKL
NLIPRVDGEYDLKVPRDMAYVFGGAYVPLSCRIIEQVLER*SWQGLDEVVRLLNCSDFAFTDMTKEDKASSESLRLILVV
FLGGCTFSEISALRFLGREKGYRFIFLTTAVTNSARLMEAMSEVKA*

Gene Symbol:VPS33B
Accession:NM_018668
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 532
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFPHRPDAPELPDFSMLKRLARDQLIYLLEQLPGKKDLFIEADLMSPLDRIANVSILKQHEVDKLYKVENKPALSSNEQ
LCFLVRPRIKNMRYIASLVNADKLAGRTRKYKVIFSPQKFYACEMVLEEEGIYGDVSCDEWAFSLLPLDVDLLSMELPEF
FRDYFLEGDQRWINTVAQALHLLSTLYGPFPNCYGIGRCAKMAYELWRNLEEEEDGETKGRRPEIGHIFLLDRDVDFVTA
LCSQVVYEGLVDDTFRIKCGSVDFGPEVTSSDKSLKVLLNAEDKVFNEIRNEHFSNVFGFLSQKARNLQAQYDRRRGMDI
KQMKNFVSQELKGLKQEHRLLSLHIGACESIMKKKTKQDFQELIKTEHALLEGFNIRESTSYIEEHIDRQVSPIESLRLM
CLLSITENGLIPKDYRSLKTQYLQSYGPEHLLTFSNLRRAGLLTEQAPGDTLTAVESKVSKLVTDKAAGKITDAFSSLAK
RSNFRAISKKLNLIPRVDGEYDLKVPRDMAYVFGGAYVPLSCRIIEQVLER*SWQGLDEVVRLLNCSDFAFTDMTKEDKA
SSESLRLILVVFLGGCTFSEISALRFLGREKGYRFIFLTTAVTNSARLMEAMSEVKA*

Gene Symbol:VPS33B
Accession:XM_005254887
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 441
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRYIASLVNADKLAGRTRKYKVIFSPQKFYACEMVLEEEGIYGDVSCDEWAFSLLPLDVDLLSMELPEFFRDYFLEGDQR
WINTVAQALHLLSTLYGPFPNCYGIGRCAKMAYELWRNLEEEEDGETKGRRPEIGHIFLLDRDVDFVTALCSQVVYEGLV
DDTFRIKCGSVDFGPEVTSSDKSLKVLLNAEDKVFNEIRNEHFSNVFGFLSQKARNLQAQYDRRRGMDIKQMKNFVSQEL
KGLKQEHRLLSLHIGACESIMKKKTKQDFQELIKTEHALLEGFNIRESTSYIEEHIDRQVSPIESLRLMCLLSITENGLI
PKDYRSLKTQYLQSYGPEHLLTFSNLRRAGLLTEQAPGDTLTAVESKVSKLVTDKAAGKITDAFSSLAKRSNFRAISKKL
NLIPRVDGEYDLKVPRDMAYVFGGAYVPLSCRIIEQVLER*SWQGLDEVVRLLNCSDFAFTDMTKEDKASSESLRLILVV
FLGGCTFSEISALRFLGREKGYRFIFLTTAVTNSARLMEAMSEVKA*

Gene Symbol:VPS33B
Accession:NM_001289148
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 505
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFPHRPDAPELPDFSMLKRLARDQLIYLLEQQHEVDKLYKVENKPALSSNEQLCFLVRPRIKNMRYIASLVNADKLAGR
TRKYKVIFSPQKFYACEMVLEEEGIYGDVSCDEWAFSLLPLDVDLLSMELPEFFRDYFLEGDQRWINTVAQALHLLSTLY
GPFPNCYGIGRCAKMAYELWRNLEEEEDGETKGRRPEIGHIFLLDRDVDFVTALCSQVVYEGLVDDTFRIKCGSVDFGPE
VTSSDKSLKVLLNAEDKVFNEIRNEHFSNVFGFLSQKARNLQAQYDRRRGMDIKQMKNFVSQELKGLKQEHRLLSLHIGA
CESIMKKKTKQDFQELIKTEHALLEGFNIRESTSYIEEHIDRQVSPIESLRLMCLLSITENGLIPKDYRSLKTQYLQSYG
PEHLLTFSNLRRAGLLTEQAPGDTLTAVESKVSKLVTDKAAGKITDAFSSLAKRSNFRAISKKLNLIPRVDGEYDLKVPR
DMAYVFGGAYVPLSCRIIEQVLER*SWQGLDEVVRLLNCSDFAFTDMTKEDKASSESLRLILVVFLGGCTFSEISALRFL
GREKGYRFIFLTTAVTNSARLMEAMSEVKA*

Gene Symbol:VPS33B
Accession:XM_011521449
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPHRVLLPSPDSPPSSQRDFTHAFPDVSCDEWAFSLLPLDVDLLSMELPEFFRDYFLEGDQRWINTVAQALHLLSTLYG
PFPNCYGIGRCAKMAYELWRNLEEEEDGETKGRRPEIGHIFLLDRDVDFVTALCSQVVYEGLVDDTFRIKCGSVDFGPEV
TSSDKSLKVLLNAEDKVFNEIRNEHFSNVFGFLSQKARNLQAQYDRRRGMDIKQMKNFVSQELKGLKQEHRLLSLHIGAC
ESIMKKKTKQDFQELIKTEHALLEGFNIRESTSYIEEHIDRQVSPIESLRLMCLLSITENGLIPKDYRSLKTQYLQSYGP
EHLLTFSNLRRAGLLTEQAPGDTLTAVESKVSKLVTDKAAGKITDAFSSLAKRSNFRAISKKLNLIPRVDGEYDLKVPRD
MAYVFGGAYVPLSCRIIEQVLER*SWQGLDEVVRLLNCSDFAFTDMTKEDKASSESLRLILVVFLGGCTFSEISALRFLG
REKGYRFIFLTTAVTNSARLMEAMSEVKA*

Gene Symbol:VPS33B
Accession:XM_047432384
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:15052268   PMID:16896922   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000002285 CLINVAR
  RCV003555897 CLINVAR
dbSNP (RS) rs121434383 CLINVAR
MedGen C1859722 CLINVAR
  C3661900 CLINVAR
NCBI Gene VPS33B CLINVAR
OMIM 208085 CLINVAR
  608552 CLINVAR
OMIM Allele 608552.0001 CLINVAR