RGD:152174115 Rat Genome Database

Variant: RGD:152174115 - Homo sapiens

RGD ID:

152174115

RS ID:

rs375073968

ClinVar ID:

CV1622084

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CTSB

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	8	11,703,280
GRCh38	8	11,845,771

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001317237.2:c.440C>G NM_001384714.1:c.812C>G NM_001384723.1:c.812C>G NM_001384724.1:c.812C>G More...	11/19/2021	missense variant	likely benign	none provided

Variant Details

Variant Transcripts

Gene Symbol:	CTSB
Accession:	NM_147781
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	271

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVSGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDHCG IESEVVAGIPRTDQYWEKI*

Gene Symbol:	CTSB
Accession:	NM_001317237
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	147

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHGNNGHSVPPSKRSETRAPVAPAGCNGGYPAEAWNFWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDT PKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIMAEIYKNGPVEGAFSVYSDFLLYKSGVYQHVSGEMMGGHAIRILG WGVENGTPYWLVANSWNTDWGDNGFFKILRGQDHCGIESEVVAGIPRTDQYWEKI*

Gene Symbol:	CTSB
Accession:	NM_001384724
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	271

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVSGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDHCG IESEVVAGIPRTDQYWEKI*

Gene Symbol:	CTSB
Accession:	NM_147782
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	271

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVSGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDHCG IESEVVAGIPRTDQYWEKI*

Gene Symbol:	CTSB
Accession:	NM_147780
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	271

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVSGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDHCG IESEVVAGIPRTDQYWEKI*

Gene Symbol:	CTSB
Accession:	NM_001384727
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	271

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVSGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDHCG IESEVVAGIPRTDQYWEKI*

Gene Symbol:	CTSB
Accession:	NM_001384725
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	271

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVSGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDHCG IESEVVAGIPRTDQYWEKI*

Gene Symbol:	CTSB
Accession:	NM_001908
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	271

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVSGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDHCG IESEVVAGIPRTDQYWEKI*

Gene Symbol:	CTSB
Accession:	NM_001384714
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	271

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVSGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDHCG IESEVVAGIPRTDQYWEKI*

Gene Symbol:	CTSB
Accession:	NM_001384728
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	271

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVSGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDHCG IESEVVAGIPRTDQYWEKI*

Gene Symbol:	CTSB
Accession:	NM_001384723
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	271

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVSGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDHCG IESEVVAGIPRTDQYWEKI*

Gene Symbol:	CTSB
Accession:	NM_147783
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	271

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVSGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDHCG IESEVVAGIPRTDQYWEKI*

Gene Symbol:	CTSB
Accession:	NM_001384726
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	271

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKL PASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIM AEIYKNGPVEGAFSVYSDFLLYKSGVYQHVSGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDHCG IESEVVAGIPRTDQYWEKI*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV002184398	CLINVAR
dbSNP (RS)	rs375073968	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	CTSB	CLINVAR
OMIM	116810	CLINVAR

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:152174115 - Homo sapiens