RGD:405738561 Rat Genome Database

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Variant: RGD:405738561 -  Homo sapiens

RGD ID: 405738561
ClinVar ID: CV3320203
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RPP30  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 92,660,346
GRCh38 10 90,900,589
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001104546.2:c.717T>G
NM_006413.5:c.717T>G
NC_000010.11:g.90900589T>G
NC_000010.10:g.92660346T>G
More... 		01/09/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:RPP30
Accession:NM_001104546
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 239
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVFADLDLRAGSDLKALRGLVETAAHLGYSVVAINHIVDFKEKKQEIEKPVAVSELFTTLPIVQGKSRPIKILTRLTII
VSDPSHCNVLRATSSRARLYDVVAVFPKTEKLFHIACTHLDVDLVCITVTEKLPFYFKRPPINVAIDRGLAFELVYSPAI
KDSTMRRYTISSALNLMQICKGKNVIISSAAERPLEIRGPYDVANLGLLFGLSESDAKAAVSTNCRAALLHGETRKTALG
IISTVKKPRPSEGDEDCLPASKKAKWSHSVTQAGVQWHNLGSLQPLPLGLKPSSHLSLPRTRIQQRQLLISHQRDHTPKN
RL*

Gene Symbol:RPP30
Accession:NM_006413
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 239
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVFADLDLRAGSDLKALRGLVETAAHLGYSVVAINHIVDFKEKKQEIEKPVAVSELFTTLPIVQGKSRPIKILTRLTII
VSDPSHCNVLRATSSRARLYDVVAVFPKTEKLFHIACTHLDVDLVCITVTEKLPFYFKRPPINVAIDRGLAFELVYSPAI
KDSTMRRYTISSALNLMQICKGKNVIISSAAERPLEIRGPYDVANLGLLFGLSESDAKAAVSTNCRAALLHGETRKTALG
IISTVKKPRPSEGDEDCLPASKKAKCEG*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004452024 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene RPP30 CLINVAR
OMIM 606115 CLINVAR