RGD:405670446 Rat Genome Database

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Variant: RGD:405670446 -  Homo sapiens

RGD ID: 405670446
ClinVar ID: CV3308873
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RBM17  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 6,146,978
GRCh38 10 6,105,015
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000010.10:g.6146978G>A
NM_001145547.1:c.325G>A
NP_001139019.1:p.Glu109Lys
NM_001145547.2:c.325G>A
More... 		11/13/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:RBM17
Accession:NM_032905
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLYDDLGVETSDSKTEGWSKNFKLLQSQLQVKKAALTQAKSQRTKQSTVLAPVIDLKRGGSSDDRQIVDTPPHVAAGLK
DPVPSGFSAGEVLIPLADEYDPMFPNDYKKVVKRQREERQRQRELERQKEIEEREKRRKDRHEASGFARRPDPDSDEDED
YERERRKRSMGGAAIAPPTSLVEKDKELPRDFPYEEDSRPRSQSSKAAIPPPVYEEQDRPRSPTGPSNSFLANMGGTVAH
KIMQKYGFREGQGLGKHEQGLSTALSVEKTSKRGGKIIVGDATEKDASKKSDSNPLTEILKCPTKVVLLRNMVGAGEVDE
DLEVETKEECEKYGKVGKCVIFEIPGAPDDEAVRIFLEFERVESAIKAVVDLNGRYFGGRVVKACFYNLDKFRVLDLAEQ
V*

Gene Symbol:RBM17
Accession:NM_001145547
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLYDDLGVETSDSKTEGWSKNFKLLQSQLQVKKAALTQAKSQRTKQSTVLAPVIDLKRGGSSDDRQIVDTPPHVAAGLK
DPVPSGFSAGEVLIPLADEYDPMFPNDYKKVVKRQREERQRQRELERQKEIEEREKRRKDRHEASGFARRPDPDSDEDED
YERERRKRSMGGAAIAPPTSLVEKDKELPRDFPYEEDSRPRSQSSKAAIPPPVYEEQDRPRSPTGPSNSFLANMGGTVAH
KIMQKYGFREGQGLGKHEQGLSTALSVEKTSKRGGKIIVGDATEKDASKKSDSNPLTEILKCPTKVVLLRNMVGAGEVDE
DLEVETKEECEKYGKVGKCVIFEIPGAPDDEAVRIFLEFERVESAIKAVVDLNGRYFGGRVVKACFYNLDKFRVLDLAEQ
V*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004441154 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene RBM17 CLINVAR
OMIM 606935 CLINVAR