RGD:156322496 Rat Genome Database

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Variant: RGD:156322496 -  Homo sapiens

RGD ID: 156322496
ClinVar ID: CV1992254
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSB  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 11,702,700
GRCh38 8 11,845,191
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001317237.2:c.582C>G
NM_001384714.1:c.954C>G
NM_001384723.1:c.954C>G
NM_001384724.1:c.954C>G
More... 		07/25/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CTSB
Accession:NM_147783
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 318
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL
PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN
FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM
AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVTGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDQCG
IESEVVAGIPRTDQYWEKI*

Gene Symbol:CTSB
Accession:NM_001317237
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 194
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHGNNGHSVPPSKRSETRAPVAPAGCNGGYPAEAWNFWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDT
PKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIMAEIYKNGPVEGAFSVYSDFLLYKSGVYQHVTGEMMGGHAIRILG
WGVENGTPYWLVANSWNTDWGDNGFFKILRGQDQCGIESEVVAGIPRTDQYWEKI*

Gene Symbol:CTSB
Accession:NM_001384723
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 318
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL
PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN
FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM
AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVTGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDQCG
IESEVVAGIPRTDQYWEKI*

Gene Symbol:CTSB
Accession:NM_147781
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 318
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL
PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN
FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM
AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVTGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDQCG
IESEVVAGIPRTDQYWEKI*

Gene Symbol:CTSB
Accession:NM_001384726
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 318
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL
PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN
FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM
AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVTGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDQCG
IESEVVAGIPRTDQYWEKI*

Gene Symbol:CTSB
Accession:NM_147782
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 318
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL
PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN
FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM
AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVTGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDQCG
IESEVVAGIPRTDQYWEKI*

Gene Symbol:CTSB
Accession:NM_147780
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 318
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL
PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN
FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM
AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVTGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDQCG
IESEVVAGIPRTDQYWEKI*

Gene Symbol:CTSB
Accession:NM_001384728
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 318
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL
PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN
FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM
AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVTGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDQCG
IESEVVAGIPRTDQYWEKI*

Gene Symbol:CTSB
Accession:NM_001384724
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 318
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL
PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN
FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM
AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVTGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDQCG
IESEVVAGIPRTDQYWEKI*

Gene Symbol:CTSB
Accession:NM_001384714
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 318
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL
PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN
FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM
AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVTGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDQCG
IESEVVAGIPRTDQYWEKI*

Gene Symbol:CTSB
Accession:NM_001908
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 318
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL
PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN
FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM
AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVTGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDQCG
IESEVVAGIPRTDQYWEKI*

Gene Symbol:CTSB
Accession:NM_001384727
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 318
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL
PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN
FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM
AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVTGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDQCG
IESEVVAGIPRTDQYWEKI*

Gene Symbol:CTSB
Accession:NM_001384725
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 318
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL
PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN
FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM
AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVTGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDQCG
IESEVVAGIPRTDQYWEKI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002649344 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CTSB CLINVAR
OMIM 116810 CLINVAR