RGD:155939308 Rat Genome Database

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Variant: RGD:155939308 -  Homo sapiens

RGD ID: 155939308
ClinVar ID: CV2376664
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RRP1B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 45,107,828
GRCh38 21 43,687,947
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015056.3:c.1573C>T
NC_000021.9:g.43687947C>T
NC_000021.8:g.45107828C>T
NM_015056.2:c.1573C>T
More... 		12/06/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:RRP1B
Accession:NM_015056
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 525
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPAMQPAEIQFAQRLASSEKGIRDRAVKKLRQYISVKTQRETGGFSQEELLKIWKGLFYCMWVQDEPLLQEELANTIAQ
LVHAVNNSAAQHLFIQTFWQTMNREWKGIDRLRLDKYYMLIRLVLRQSFEVLKRNGWEESRIKVFLDVLMKEVLCPESQS
PNGVRFHFIDIYLDELSKVGGKELLADQNLKFIDPFCKIAAKTKDHTLVQTIARGVFEAIVDQSPFVPEETMEEQKTKVG
DGDLSAEEIPENEVSLRRAVSKKKTALGKNHSRKDGLSDERGRDDCGTFEDTGPLLQFDYKAVADRLLEMTSRKNTPHFN
RKRLSKLIKKFQDLSEGSSISQLSFAEDISADEDDQILSQGKHKKKGNKLLEKTNLEKEKGSRVFCVEEEDSESSLQKRR
RKKKKKHHLQPENPGPGGAAPSLEQNRGREPEASGLKALKARVAEPGAEATSSTGEESGSEHPPAVPMHNKRKRPRKKSP
RAHREMLESAVLPPEDMSQSGPSGSHPQGPRGSPTGGAQLLKRKWKLGVVPVNGSGLSTPAWPPLQQEGPPTGPAEGANS
HTTLPQRRRLQKKKAGPGSLELCGLPSQKTASLKKRKKMRVMSNLVEHNGVLESEAGQPQALGSSGTCSSLKKQKLRAES
DFVKFDTPFLPKPLFFRRAKSSTATHPPGPAVQLNKTPSSSKKVTFGLNRNMTAEFKKTDKSILVSPTGPSRVAFDPEQK
PLHGVLKTPTSSPASSPLVAKKPLTTTPRRRPRAMDFF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004222861 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene RRP1B CLINVAR
OMIM 610654 CLINVAR