RGD:8569718 Rat Genome Database

Advanced Search (OLGA)

Variant: RGD:8569718 - Homo sapiens

RGD ID:

8569718

RS ID:

rs193922574

ClinVar ID:

CV45380

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

RAG2

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	36,615,502
GRCh38	11	36,593,952

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
LRG_99:g.9285C>T NG_007573.1:g.9285C>T NC_000011.10:g.36593952G>A NC_000011.9:g.36615502G>A More...	11/14/2023	2kb upstream variant\|missense\|missense variant	pathogenic\|likely pathogenic	Bubble boy disease; Combined cellular and humoral immune defects with granulomas; Omenn syndrome; RAG2 deficiency; Reticuloendotheliosis familial with eosinophilia; SCID, AR, T-cell negative, B-cell negative, NK cell-positive; SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE; Severe Combined Immune Deficiency; Severe combined immunodeficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency; Severe combined immunodeficiency with hypereosinophilia; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive

Disease Annotations Click to see Annotation Detail View

combined cellular and humoral immune defects with granulomas (IAGP)

histiocytic sarcoma (IAGP)

recombinase activating gene 2 deficiency (IAGP)

severe combined immunodeficiency (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Severe combined immunodeficiency (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	RAG2
Accession:	NM_000536
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	73

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLQMVTVSNNIALIQPGFSLMNFDGQVFFFGQKGWPKRSCPTGVFHLDVKHNHVKLKPTIFSKDSCYLPPLCYPATCTF KGSLESEKHQYIIHGGKTPNNEVSDKIYVMSIVCKNNKKVTFRCTEKDLVGDVPEARYGHSINVVYSRGKSMGVLFGGRS YMPSTHRTTEKWNSVADCLPCVFLVDFEFGCATSYILPELQDGLSFHVSIAKNDTIYILGGHSLANNIRPANLYRIRVDL PLGSPAVNCTVLPGGISVSSAILTQTNNDEFVIVGGYQLENQKRMICNIISLEDNKIEIREMETPDWTPDIKHSKIWFGS NMGNGTVFLGIPGDNKQVVSEGFYFYMLKCAEDDTNEEQTTFTNSQTSTEDPGDSTPFEDSEEFCFSAEANSFDGDDEFD TYNEDDEEDESETGYWITCCPTCDVDINTWVPFYSTELNKPAMIYCSHGDGHWVHAQCMDLAERTLIHLSAGSNKYYCNE HVEIARALHTPQRVLPLKKPPMKSLRKKGSGKILTPAKKSFLRRLFD*

Gene Symbol:	RAG2
Accession:	XM_047427385
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	73

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLQMVTVSNNIALIQPGFSLMNFDGQVFFFGQKGWPKRSCPTGVFHLDVKHNHVKLKPTIFSKDSCYLPPLCYPATCTF KGSLESEKHQYIIHGGKTPNNEVSDKIYVMSIVCKNNKKVTFRCTEKDLVGDVPEARYGHSINVVYSRGKSMGVLFGGRS YMPSTHRTTEKWNSVADCLPCVFLVDFEFGCATSYILPELQDGLSFHVSIAKNDTIYILGGHSLANNIRPANLYRIRVDL PLGSPAVNCTVLPGGISVSSAILTQTNNDEFVIVGGYQLENQKRMICNIISLEDNKIEIREMETPDWTPDIKHSKIWFGS NMGNGTVFLGIPGDNKQVVSEGFYFYMLKCAEDDTNEEQTTFTNSQTSTEDPGDSTPFEDSEEFCFSAEANSFDGDDEFD TYNEDDEEDESETGYWITCCPTCDVDINTWVPFYSTELNKPAMIYCSHGDGHWVHAQCMDLAERTLIHLSAGSNKYYCNE HVEIARALHTPQRVLPLKKPPMKSLRKKGSGKILTPAKKSFLRRLFD*

Gene Symbol:	RAG2
Accession:	XM_047427386
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	73

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLQMVTVSNNIALIQPGFSLMNFDGQVFFFGQKGWPKRSCPTGVFHLDVKHNHVKLKPTIFSKDSCYLPPLCYPATCTF KGSLESEKHQYIIHGGKTPNNEVSDKIYVMSIVCKNNKKVTFRCTEKDLVGDVPEARYGHSINVVYSRGKSMGVLFGGRS YMPSTHRTTEKWNSVADCLPCVFLVDFEFGCATSYILPELQDGLSFHVSIAKNDTIYILGGHSLANNIRPANLYRIRVDL PLGSPAVNCTVLPGGISVSSAILTQTNNDEFVIVGGYQLENQKRMICNIISLEDNKIEIREMETPDWTPDIKHSKIWFGS NMGNGTVFLGIPGDNKQVVSEGFYFYMLKCAEDDTNEEQTTFTNSQTSTEDPGDSTPFEDSEEFCFSAEANSFDGDDEFD TYNEDDEEDESETGYWITCCPTCDVDINTWVPFYSTELNKPAMIYCSHGDGHWVHAQCMDLAERTLIHLSAGSNKYYCNE HVEIARALHTPQRVLPLKKPPMKSLRKKGSGKILTPAKKSFLRRLFD*

Gene Symbol:	RAG2
Accession:	NM_001243785
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	73

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLQMVTVSNNIALIQPGFSLMNFDGQVFFFGQKGWPKRSCPTGVFHLDVKHNHVKLKPTIFSKDSCYLPPLCYPATCTF KGSLESEKHQYIIHGGKTPNNEVSDKIYVMSIVCKNNKKVTFRCTEKDLVGDVPEARYGHSINVVYSRGKSMGVLFGGRS YMPSTHRTTEKWNSVADCLPCVFLVDFEFGCATSYILPELQDGLSFHVSIAKNDTIYILGGHSLANNIRPANLYRIRVDL PLGSPAVNCTVLPGGISVSSAILTQTNNDEFVIVGGYQLENQKRMICNIISLEDNKIEIREMETPDWTPDIKHSKIWFGS NMGNGTVFLGIPGDNKQVVSEGFYFYMLKCAEDDTNEEQTTFTNSQTSTEDPGDSTPFEDSEEFCFSAEANSFDGDDEFD TYNEDDEEDESETGYWITCCPTCDVDINTWVPFYSTELNKPAMIYCSHGDGHWVHAQCMDLAERTLIHLSAGSNKYYCNE HVEIARALHTPQRVLPLKKPPMKSLRKKGSGKILTPAKKSFLRRLFD*

Gene Symbol:	RAG2
Accession:	NM_001243786
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	73

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLQMVTVSNNIALIQPGFSLMNFDGQVFFFGQKGWPKRSCPTGVFHLDVKHNHVKLKPTIFSKDSCYLPPLCYPATCTF KGSLESEKHQYIIHGGKTPNNEVSDKIYVMSIVCKNNKKVTFRCTEKDLVGDVPEARYGHSINVVYSRGKSMGVLFGGRS YMPSTHRTTEKWNSVADCLPCVFLVDFEFGCATSYILPELQDGLSFHVSIAKNDTIYILGGHSLANNIRPANLYRIRVDL PLGSPAVNCTVLPGGISVSSAILTQTNNDEFVIVGGYQLENQKRMICNIISLEDNKIEIREMETPDWTPDIKHSKIWFGS NMGNGTVFLGIPGDNKQVVSEGFYFYMLKCAEDDTNEEQTTFTNSQTSTEDPGDSTPFEDSEEFCFSAEANSFDGDDEFD TYNEDDEEDESETGYWITCCPTCDVDINTWVPFYSTELNKPAMIYCSHGDGHWVHAQCMDLAERTLIHLSAGSNKYYCNE HVEIARALHTPQRVLPLKKPPMKSLRKKGSGKILTPAKKSFLRRLFD*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:20603253	PMID:21131235	PMID:24481607	PMID:25109802	PMID:25333069	PMID:25741868	PMID:26476733	PMID:26515615	PMID:28492532	PMID:28747913

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001059752	CLINVAR
	RCV001731320	CLINVAR
	RCV001831615	CLINVAR
	RCV003325303	CLINVAR
	RCV003473152	CLINVAR
dbSNP (RS)	rs193922574	CLINVAR
MedGen	C0085110	CLINVAR
	C2673536	CLINVAR
	C2700553	CLINVAR
	CN257931	CLINVAR
NCBI Gene	RAG2	CLINVAR
OMIM	179616	CLINVAR
	233650	CLINVAR
	601457	CLINVAR
	603554	CLINVAR
SNOMED CT	307650006	CLINVAR
	31323000	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)

Variant: RGD:8569718 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

Create Name:

Description:

Send us a Message

Variant: RGD:8569718 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar