RGD:405771816 Rat Genome Database

Advanced Search (OLGA)

Variant: RGD:405771816 - Homo sapiens

RGD ID:

405771816

ClinVar ID:

CV3299750

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CD33 LOC107985327

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	19	51,728,773
GRCh38	19	51,225,517

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_001177608.2:c.337A>G NM_001772.4:c.337A>G NM_001082618.2:c.38-286A>G NC_000019.10:g.51225517A>G More...	02/17/2024	intron variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	CD33
Accession:	XM_047439729
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	167

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFREGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV DARRRDDGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTTGIFPGDGSGKQETRAGVVHGAIGGAG VTALLALCLCLIFFIVKTHRRKAARTAVGRNDTHPTTGSASPKHQKKSKLHGPTETSSCSGAAPTVEMDEELHYASLNFH GMNPSKDTSTEYSEVRTQ*

Gene Symbol:	CD33
Accession:	XM_017027509
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	167

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFREGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV DARRRDDGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTWKQETRAGVVHGAIGGAGVTALLALCLCLIFFIV KTHRRKAARTAVGRNDTHPTTGSASPKHQKKSKLHGPTETSSCSGAAPTVEMDEELHYASLNFHGMNPSKDTSTEYSEVR TQ*

Gene Symbol:	CD33
Accession:	XM_047439731
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	167

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFREGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV DARRRDDGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTTGIFPGDGSGKQETRAGVVHGAIGGAG VTALLALCLCLIFFMLITMAPQPEKTRLKDPGVSHQSEDPQEESSQDSSGQE*

Gene Symbol:	CD33
Accession:	XM_047439728
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	167

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFREGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV DARRRDDGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTTGIFPGDGSGKQETRAGVVHGAIGGAG VTALLALCLCLIFFIVKTHRRKAARTAVGRNDTHPTTGSASPKHQKKSKLHGPTETSSCSGAAPTVEMDEELHYASLNFH GMNPSKDTSTEYSEVRTQ*

Gene Symbol:	CD33
Accession:	XM_047439732
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	167

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFREGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV DARRRDDGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTTGIFPGDGSGKQETRAGVVHGAIGGAG VTALLALCLCLIFFIPSFQAHNNGPTA*

Gene Symbol:	CD33
Accession:	NM_001772
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	113

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLLLLLPLLWAGALAMDPNFWLQVQESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFREGAIISRDSPVATNKLDQ EVQEETQGRFRLLGDPSRNNCSLSIVDARRRDDGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKN LTCSVSWACEQGTPPIFSWLSAAPTSLGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTT GIFPGDGSGKQETRAGVVHGAIGGAGVTALLALCLCLIFFIVKTHRRKAARTAVGRNDTHPTTGSASPKHQKKSKLHGPT ETSSCSGAAPTVEMDEELHYASLNFHGMNPSKDTSTEYSEVRTQ*

Gene Symbol:	CD33
Accession:	XM_017027508
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	167

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFREGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV DARRRDDGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTTGIFPGDGSGKQETRAGVVHGAIGGAG VTALLALCLCLIFFIVKTHRRKAARTAVGRNDTHPTTGSASPKHQKKSKLHGPTETSSCSGAAPTVEMDEELHYASLNFH GMNPSKDTSTEYSEVRTQ*

Gene Symbol:	CD33
Accession:	XM_011527532
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	113

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLLLLLPLLWAGALAMDPNFWLQVQESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFREGAIISRDSPVATNKLDQ EVQEETQGRFRLLGDPSRNNCSLSIVDARRRDDGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKN LTCSVSWACEQGTPPIFSWLSAAPTSLGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTT GIFPGDGSGKQETRAGVVHGAIGGAGVTALLALCLCLIFFIVKTHRRKAARTAVGRNDTHPTTGSASPKHQKKSKLHGPT ETSSCSGAAPTVEMDEELHYASLNFHGMNPSKDTSTEYSEVRTQ*

Gene Symbol:	CD33
Accession:	XM_011527531
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	167

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFREGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV DARRRDDGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTTGIFPGDGSGKQETRAGVVHGAIGGAG VTALLALCLCLIFFIVKTHRRKAARTAVGRNDTHPTTGSASPKHQKKSKLHGPTETSSCSGAAPTVEMDEELHYASLNFH GMNPSKDTSTEYSEVRTQ*

Gene Symbol:	CD33
Accession:	XM_047439730
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	167

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFREGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV DARRRDDGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTTGIFPGDGSGKQETRAGVVHGAIGGAG VTALLALCLCLIFFMLITMAPQPEKTRLKDPGVSHQSEDPQEESSQDSSGQE*

Gene Symbol:	CD33
Accession:	NM_001177608
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	113

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLLLLLPLLWAGALAMDPNFWLQVQESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFREGAIISRDSPVATNKLDQ EVQEETQGRFRLLGDPSRNNCSLSIVDARRRDDGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKN LTCSVSWACEQGTPPIFSWLSAAPTSLGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTT GIFPGDGSGKQETRAGVVHGAIGGAGVTALLALCLCLIFFIVKTHRRKAARTAVGRNDTHPTTGSASPVR*

Gene Symbol:	CD33
Accession:	XR_007067046
Location:	EXON;NON-CODING

Gene Symbol:	CD33
Accession:	NM_001082618
Location:	INTRON

Gene Symbol:	CD33
Accession:	XM_017027510
Location:	INTRON

Gene Symbol:	LOC107985327
Accession:	XR_001753982
Location:	INTRON;NON-CODING

Gene Symbol:	LOC107985327
Accession:	XR_007067309
Location:	INTRON;NON-CODING

Gene Symbol:	LOC107985327
Accession:	XR_001753983
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV004435422	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	CD33	CLINVAR
OMIM	159590	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)

Create Name:

Description:

Send us a Message

Variant: RGD:405771816 - Homo sapiens