RGD:127290464 Rat Genome Database

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Variant: RGD:127290464 -  Homo sapiens

RGD ID: 127290464
RS ID: rs199582927
ClinVar ID: CV1155837
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSB  LOC127458688  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 11,706,546
GRCh38 8 11,849,037
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001384714.1:c.446+9G>C
NM_001384723.1:c.446+9G>C
NM_001384724.1:c.446+9G>C
NM_001384726.1:c.446+9G>C
More... 		12/04/2020 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CTSB
Accession:NM_147783
Location:INTRON

Gene Symbol:CTSB
Accession:NM_147780
Location:INTRON

Gene Symbol:CTSB
Accession:NM_001384725
Location:INTRON

Gene Symbol:CTSB
Accession:NM_001384714
Location:INTRON

Gene Symbol:CTSB
Accession:NM_001384727
Location:INTRON

Gene Symbol:CTSB
Accession:NM_147781
Location:INTRON

Gene Symbol:CTSB
Accession:NM_147782
Location:INTRON

Gene Symbol:CTSB
Accession:NM_001384728
Location:INTRON

Gene Symbol:CTSB
Accession:NM_001908
Location:INTRON

Gene Symbol:CTSB
Accession:NM_001384723
Location:INTRON

Gene Symbol:CTSB
Accession:NM_001317237
Location:INTRON

Gene Symbol:CTSB
Accession:NM_001384726
Location:INTRON

Gene Symbol:CTSB
Accession:NM_001384724
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001509848 CLINVAR
dbSNP (RS) rs199582927 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CTSB CLINVAR
OMIM 116810 CLINVAR