RGD:405771851 Rat Genome Database

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Variant: RGD:405771851 -  Homo sapiens

RGD ID: 405771851
ClinVar ID: CV3299756
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD33  LOC107985327  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 51,738,863
GRCh38 19 51,235,608
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001082618.2:c.475A>G
NM_001177608.2:c.856A>G
NM_001772.4:c.856A>G
NC_000019.10:g.51235608A>G
More... 		12/12/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CD33
Accession:XM_047439732
Location:3UTRS;EXON

Gene Symbol:CD33
Accession:XM_047439730
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 361
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ
ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFREGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV
DARRRDNGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS
LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTTGIFPGDGSGKQETRAGVVHGAIGGAG
VTALLALCLCLIFFMLITMAPQPEKTRLKDPGVSHQSEDPREESSQDSSGQE*

Gene Symbol:CD33
Accession:NM_001772
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 286
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLLLLLPLLWAGALAMDPNFWLQVQESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFREGAIISRDSPVATNKLDQ
EVQEETQGRFRLLGDPSRNNCSLSIVDARRRDNGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKN
LTCSVSWACEQGTPPIFSWLSAAPTSLGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTT
GIFPGDGSGKQETRAGVVHGAIGGAGVTALLALCLCLIFFIVKTHGRKAARTAVGRNDTHPTTGSASPKHQKKSKLHGPT
ETSSCSGAAPTVEMDEELHYASLNFHGMNPSKDTSTEYSEVRTQ*

Gene Symbol:CD33
Accession:XM_017027509
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 324
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ
ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFREGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV
DARRRDNGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS
LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTWKQETRAGVVHGAIGGAGVTALLALCLCLIFFIV
KTHGRKAARTAVGRNDTHPTTGSASPKHQKKSKLHGPTETSSCSGAAPTVEMDEELHYASLNFHGMNPSKDTSTEYSEVR
TQ*

Gene Symbol:CD33
Accession:NM_001082618
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLLLLLPLLWADLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTSLGPRTTHSSVLIITPRPQDHG
TNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTTGIFPGDGSGKQETRAGVVHGAIGGAGVTALLALCLCLIFFIVKTHGR
KAARTAVGRNDTHPTTGSASPKHQKKSKLHGPTETSSCSGAAPTVEMDEELHYASLNFHGMNPSKDTSTEYSEVRTQ*

Gene Symbol:CD33
Accession:XM_017027508
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 340
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ
ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFREGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV
DARRRDNGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS
LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTTGIFPGDGSGKQETRAGVVHGAIGGAG
VTALLALCLCLIFFIVKTHGRKAARTAVGRNDTHPTTGSASPKHQKKSKLHGPTETSSCSGAAPTVEMDEELHYASLNFH
GMNPSKDTSTEYSEVRTQ*

Gene Symbol:CD33
Accession:XM_017027510
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWADLTHRPKILIPGTL
EPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTSLGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTY
VPQNPTTGIFPGDGSGKQETRAGVVHGAIGGAGVTALLALCLCLIFFIVKTHGRKAARTAVGRNDTHPTTGSASPKHQKK
SKLHGPTETSSCSGAAPTVEMDEELHYASLNFHGMNPSKDTSTEYSEVRTQ*

Gene Symbol:CD33
Accession:NM_001177608
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 286
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLLLLLPLLWAGALAMDPNFWLQVQESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFREGAIISRDSPVATNKLDQ
EVQEETQGRFRLLGDPSRNNCSLSIVDARRRDNGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKN
LTCSVSWACEQGTPPIFSWLSAAPTSLGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTT
GIFPGDGSGKQETRAGVVHGAIGGAGVTALLALCLCLIFFIVKTHGRKAARTAVGRNDTHPTTGSASPVR*

Gene Symbol:CD33
Accession:XM_047439729
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 340
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ
ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFREGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV
DARRRDNGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS
LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTTGIFPGDGSGKQETRAGVVHGAIGGAG
VTALLALCLCLIFFIVKTHGRKAARTAVGRNDTHPTTGSASPKHQKKSKLHGPTETSSCSGAAPTVEMDEELHYASLNFH
GMNPSKDTSTEYSEVRTQ*

Gene Symbol:CD33
Accession:XM_047439731
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 361
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ
ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFREGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV
DARRRDNGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS
LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTTGIFPGDGSGKQETRAGVVHGAIGGAG
VTALLALCLCLIFFMLITMAPQPEKTRLKDPGVSHQSEDPREESSQDSSGQE*

Gene Symbol:CD33
Accession:XM_047439728
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 340
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ
ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFREGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV
DARRRDNGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS
LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTTGIFPGDGSGKQETRAGVVHGAIGGAG
VTALLALCLCLIFFIVKTHGRKAARTAVGRNDTHPTTGSASPKHQKKSKLHGPTETSSCSGAAPTVEMDEELHYASLNFH
GMNPSKDTSTEYSEVRTQ*

Gene Symbol:CD33
Accession:XM_011527531
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 340
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLGEAATRARPAVISPGVNSCAQKSTSEWKDFRHGVRMSQMALKEALEAASSDMPLLLLLPLLWAGALAMDPNFWLQVQ
ESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFREGAIISRDSPVATNKLDQEVQEETQGRFRLLGDPSRNNCSLSIV
DARRRDNGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKNLTCSVSWACEQGTPPIFSWLSAAPTS
LGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTTGIFPGDGSGKQETRAGVVHGAIGGAG
VTALLALCLCLIFFIVKTHGRKAARTAVGRNDTHPTTGSASPKHQKKSKLHGPTETSSCSGAAPTVEMDEELHYASLNFH
GMNPSKDTSTEYSEVRTQ*

Gene Symbol:CD33
Accession:XM_011527532
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 286
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLLLLLPLLWAGALAMDPNFWLQVQESVTVQEGLCVLVPCTFFHPIPYYDKNSPVHGYWFREGAIISRDSPVATNKLDQ
EVQEETQGRFRLLGDPSRNNCSLSIVDARRRDNGSYFFRMERGSTKYSYKSPQLSVHVTDLTHRPKILIPGTLEPGHSKN
LTCSVSWACEQGTPPIFSWLSAAPTSLGPRTTHSSVLIITPRPQDHGTNLTCQVKFAGAGVTTERTIQLNVTYVPQNPTT
GIFPGDGSGKQETRAGVVHGAIGGAGVTALLALCLCLIFFIVKTHGRKAARTAVGRNDTHPTTGSASPKHQKKSKLHGPT
ETSSCSGAAPTVEMDEELHYASLNFHGMNPSKDTSTEYSEVRTQ*

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

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

Additional Information

Database Acc Id Source(s)
ClinVar RCV004435428 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CD33 CLINVAR
OMIM 159590 CLINVAR