RGD:26915049 Rat Genome Database

Variant: RGD:26915049 - Homo sapiens

RGD ID:

26915049

RS ID:

rs200012872

ClinVar ID:

CV825557

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CASP10

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	2	202,050,642
GRCh38	2	201,185,919

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
NP_001193453.1:p.Pro48Ser NP_001193471.1:p.Pro48Ser NP_001221.2:p.Pro48Ser NP_001293012.1:p.Pro48Ser More...	11/29/2019	missense variant	uncertain significance	Autoimmune lymphoproliferative syndrome type 2; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA

Disease Annotations Click to see Annotation Detail View

autoimmune lymphoproliferative syndrome type 2A (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	CASP10
Accession:	XM_005246907
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	48

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVSNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLA ELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQG KIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPESWQNKHAGSNG NRATNGAPSLVSRGMQGASANTLNSETSTKRAAVYRMNRNHRGLCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTV HIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQAC QGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCNHLKKLVPRHEDILSILT AVNDDVSRRVDKQGTKKQMPQPAFTLRKKLVFPVPLDALSL*

Gene Symbol:	CASP10
Accession:	NM_032976
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	48

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVSNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLA ELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQG KIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPQESWQNKHAGSN EGSCVQDESEPQRPLCHCQQPQLYLPEGQTRNP*

Gene Symbol:	CASP10
Accession:	NM_001206524
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	48

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVSNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLA ELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQG KIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPQESWQNKHAGSN EILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPIREIMSHFTALQCP RLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCNHLK KLVPRHEDILSILTAVNDDVSRRVDKQGTKKQMPQPAFTLRKKLVFPVPLDALSL*

Gene Symbol:	CASP10
Accession:	NM_001306083
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	48

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVSNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLA ELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQG KIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPEGVFVFLNEGDR GNSPDDL*

Gene Symbol:	CASP10
Accession:	NM_032977
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	48

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVSNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLA ELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQG KIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPQESWQNKHAGSN GNRATNGAPSLVSRGMQGASANTLNSETSTKRAAVYRMNRNHRGLCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFT VHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQA CQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCNHLKKLVPRHEDILSIL TAVNDDVSRRVDKQGTKKQMPQPAFTLRKKLVFPVPLDALSL*

Gene Symbol:	CASP10
Accession:	NM_032974
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	48

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVSNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLA ELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQG KIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPQESWQNKHAGSN GNRATNGAPSLVSRGMQGASANTLNSETSTKRAAVYRMNRNHRGLCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFT VHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQA CQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCNHLKKLVPRMLKFLEKT MEIRGRKRTVWGAKQISATSLPTAISAQTPRPPMRRWSSVS*

Gene Symbol:	CASP10
Accession:	NM_001206542
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	48

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVSNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLA ELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQG KIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPRAAVYRMNRNHR GLCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGA VYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATV PGYVSFRHVEEGSWYIQSLCNHLKKLVPRMLKFLEKTMEIRGRKRTVWGAKQISATSLPTAISAQTPRPPMRRWSSVS*

Gene Symbol:	CASP10
Accession:	NM_001230
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	48

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVSNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLA ELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQG KIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPRAAVYRMNRNHR GLCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGA VYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATV PGYVSFRHVEEGSWYIQSLCNHLKKLVPRHEDILSILTAVNDDVSRRVDKQGTKKQMPQPAFTLRKKLVFPVPLDALSL*

Gene Symbol:	CASP10
Accession:	XR_007082551
Location:	EXON;NON-CODING

Gene Symbol:	CASP10
Accession:	XR_923043
Location:	EXON;NON-CODING

Gene Symbol:	CASP10
Accession:	XR_923044
Location:	EXON;NON-CODING

Gene Symbol:	CASP10
Accession:	XM_047446016
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001796838	CLINVAR
dbSNP (RS)	rs200012872	CLINVAR
MedGen	C1858968	CLINVAR
NCBI Gene	CASP10	CLINVAR
OMIM	601762	CLINVAR
	603909	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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

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Variant: RGD:26915049 - Homo sapiens

Imported Disease Annotations - ClinVar