RGD:8597664 Rat Genome Database

Variant: RGD:8597664 - Homo sapiens

RGD ID:

8597664

RS ID:

rs17860403

ClinVar ID:

CV22803

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CASP10

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	2	202,072,837
GRCh38	2	201,208,114

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	Age of Onset	Trait Synonyms
LRG_33t1:c.853C>T LRG_33:g.29983C>T NG_007265.1:g.29983C>T NC_000002.12:g.201208114C>T More...	05/30/2019	intron\|intron variant\|missense variant	pathogenic\|uncertain significance	all ages\|variable	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:	NM_032974
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	285

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

Gene Symbol:	CASP10
Accession:	NM_032977
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	285

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

Gene Symbol:	CASP10
Accession:	XM_047446016
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRHSWKPYRSPGKISMQVVMRAAVYRMNRNHRGFCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKV EMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSV SIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCNHLKKLVPRHEDILSILTAVNDDVSRR VDKQGTKKQMPQPAFTLRKKLVFPVPLDALSL*

Gene Symbol:	CASP10
Accession:	NM_001206542
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	242

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLA ELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQG KIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPRAAVYRMNRNHR GFCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGA VYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATV PGYVSFRHVEEGSWYIQSLCNHLKKLVPRMLKFLEKTMEIRGRKRTVWGAKQISATSLPTAISAQTPRPPMRRWSSVS*

Gene Symbol:	CASP10
Accession:	NM_032976
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	254

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLA ELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQG KIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPQESWQNKHAGSN EGSCVQDESEPQRLLCHCQQPQLYLPEGQTRNP*

Gene Symbol:	CASP10
Accession:	NM_001230
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	242

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLA ELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQG KIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPRAAVYRMNRNHR GFCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGA VYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATV PGYVSFRHVEEGSWYIQSLCNHLKKLVPRHEDILSILTAVNDDVSRRVDKQGTKKQMPQPAFTLRKKLVFPVPLDALSL*

Gene Symbol:	CASP10
Accession:	XM_005246907
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	284

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

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:	NM_001306083
Location:	INTRON

Gene Symbol:	CASP10
Accession:	NM_001206524
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:10412980	PMID:16446975	PMID:27799292	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000008205	CLINVAR
dbSNP (RS)	rs17860403	CLINVAR
MedGen	C1858968	CLINVAR
NCBI Gene	CASP10	CLINVAR
OMIM	601762	CLINVAR
	603909	CLINVAR
OMIM Allele	601762.0001	CLINVAR

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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:8597664 - Homo sapiens

Imported Disease Annotations - ClinVar