RGD:10049746 Rat Genome Database

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Variant: RGD:10049746 -  Homo sapiens

RGD ID: 10049746
RS ID: rs794727002
ClinVar ID: CV190884
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPF31  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 54,631,571
GRCh38 19 54,128,196
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009759.1:g.17782C>T
NC_000019.10:g.54128196C>T
NC_000019.9:g.54631571C>T
NP_056444.3:p.Arg357Cys
More... 		08/21/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PRPF31
Accession:XM_006723137
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 357
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLADELLADLEEAAEEEEGGSYGEEEEEPAIEDVQEETQLDLSGDSVKTIAKLWDSKMFAEIMMKIEEYISKQAKASEV
MGPVEAAPEYRVIVDANNLTVEIENELNIIHKFIRDKYSKRFPELESLVPNALDYIRTVKELGNSLDKCKNNENLQQILT
NATIMVVSVTASTTQGQQLSEEELERLEEACDMALELNASKHRIYEYVESRMSFIAPNLSIIIGASTAAKIMGVAGGLTN
LSKMPACNIMLLGAQRKTLSGFSSTSVLPHTGYIYHSDIVQSLPPDLRRKAARLVAAKCTLAARVDSFHESTEGKVGYEL
KDEIERKFDKWQEPPPVKQVKPLPAPLDGQRKKRGGCRYRKMKERLGLTEIRKQANRMSFGEIEEDAYQEDLGFSLGHLG
KSGSGRVRQTQVNEATKARISKTLQRTLQKQSVVYGGKSTIRDRSSGTASSVAFTPLQGLEIVNPQAAEKKVAEANQKYF
SSMAEFLKVKGEKSGLMST*

Gene Symbol:PRPF31
Accession:NM_015629
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 357
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLADELLADLEEAAEEEEGGSYGEEEEEPAIEDVQEETQLDLSGDSVKTIAKLWDSKMFAEIMMKIEEYISKQAKASEV
MGPVEAAPEYRVIVDANNLTVEIENELNIIHKFIRDKYSKRFPELESLVPNALDYIRTVKELGNSLDKCKNNENLQQILT
NATIMVVSVTASTTQGQQLSEEELERLEEACDMALELNASKHRIYEYVESRMSFIAPNLSIIIGASTAAKIMGVAGGLTN
LSKMPACNIMLLGAQRKTLSGFSSTSVLPHTGYIYHSDIVQSLPPDLRRKAARLVAAKCTLAARVDSFHESTEGKVGYEL
KDEIERKFDKWQEPPPVKQVKPLPAPLDGQRKKRGGCRYRKMKERLGLTEIRKQANRMSFGEIEEDAYQEDLGFSLGHLG
KSGSGRVRQTQVNEATKARISKTLQRTLQKQSVVYGGKSTIRDRSSGTASSVAFTPLQGLEIVNPQAAEKKVAEANQKYF
SSMAEFLKVKGEKSGLMST*

Gene Symbol:PRPF31
Accession:XM_047438587
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000173872 CLINVAR
dbSNP (RS) rs794727002 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PRPF31 CLINVAR
OMIM 606419 CLINVAR