RGD:156235322 Rat Genome Database

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Variant: RGD:156235322 -  Homo sapiens

RGD ID: 156235322
ClinVar ID: CV2193384
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAPOLB  RADIL  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 4,900,504
GRCh38 7 4,860,873
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018059.5:c.535+16732T>G
NM_020144.5:c.938T>G
NC_000007.14:g.4860873A>C
NC_000007.13:g.4900504A>C
More... 		10/21/2021 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PAPOLB
Accession:NM_020144
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 313
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPFPVTTQGPPQPAPPPNRYGVSSPISLAVPKETDCLLTQRLIETLRPFGVFEEEEELQRRILVLEKLNNLVKEWIREI
SESKSLPQSVIENVGGKIFTFGSYRLGVHTKGADIDALCVAPSHVDRSDFFTSFYAKLKLQEEVKDLRAVEEAFVPVIKL
CFDGIEIDILFARLALQTIPEDLDLRDDSLLKNLDIRCIRSLNGCRVTDEILHLVPNIDNFRLTLRAIKLWAKCHNIYSN
ILGFLGGVSWAMLVARTCQLYPNAVASTLVRKFFLVFSEWEWPNPVLLKEPEERNLNLPVWDPRVNPSDRYHPMPIITPA
YPQQNSTYNVSISTRMVMIEEFKQGLAITHEILLSKAEWSKLFEAPSFFQKYKHYIVLLASASTEKQHLEWVGLVESKIR
ILVGSLEKNEFITLAHVNPQSFPAPKENPDMEEFRTMWVIGLGLKKPDNSEILSIDLTYDIQSFTDTVYRQAVNSKMFEM
GMKITAMHLRRKELHQLLPHHVLQDKKAHSTEGRRLTDLNDSSFDLSAGCENSMSVPSSTSTMKTGPLISSSQGRNSPAL
AVMTASVANIQATEFSLQQVNTNESSGVALNESIPHAVSQPAISPSPKAMVARVVSSTCLISHPDLQETQQQTYLIL*

Gene Symbol:RADIL
Accession:NM_018059
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004072886 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PAPOLB CLINVAR
  RADIL CLINVAR
OMIM 607436 CLINVAR
  611491 CLINVAR