RGD:13528097 Rat Genome Database

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Variant: RGD:13528097 -  Homo sapiens

RGD ID: 13528097
RS ID: rs1554939509
ClinVar ID: CV513315
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD59  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 33,731,869
GRCh38 11 33,710,323
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_000602.1:p.Cys64Gly
NP_001120695.1:p.Cys64Gly
NP_001120697.1:p.Cys64Gly
NP_976076.1:p.Cys64Gly
More...
05/03/2020 missense variant likely pathogenic|uncertain significance CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy; HEMOLYTIC ANEMIA, CD59-MEDIATED
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CD59
Accession:NM_001127223
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGIQGGSVLFGLLLVLAVFCHSGHSLQCYNCPNPTADCKTAVNCSSDFDACLITKAGLQVYNKGWKFEHCNFNDVTTRLR
ENELTYYCCKKDLCNFNEQLENGGTSLSEKTVLLLVTPFLAAAWSLHP*

Gene Symbol:CD59
Accession:NM_001127226
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGIQGGSVLFGLLLVLAVFCHSGHSLQCYNCPNPTADCKTAVNCSSDFDACLITKAGLQVYNKGWKFEHCNFNDVTTRLR
ENELTYYCCKKDLCNFNEQLENGGTSLSEKTVLLLVTPFLAAAWSLHP*

Gene Symbol:CD59
Accession:NM_203331
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGIQGGSVLFGLLLVLAVFCHSGHSLQCYNCPNPTADCKTAVNCSSDFDACLITKAGLQVYNKGWKFEHCNFNDVTTRLR
ENELTYYCCKKDLCNFNEQLENGGTSLSEKTVLLLVTPFLAAAWSLHP*

Gene Symbol:CD59
Accession:NM_001127225
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGIQGGSVLFGLLLVLAVFCHSGHSLQCYNCPNPTADCKTAVNCSSDFDACLITKAGLQVYNKGWKFEHCNFNDVTTRLR
ENELTYYCCKKDLCNFNEQLENGGTSLSEKTVLLLVTPFLAAAWSLHP*

Gene Symbol:CD59
Accession:NM_203330
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGIQGGSVLFGLLLVLAVFCHSGHSLQCYNCPNPTADCKTAVNCSSDFDACLITKAGLQVYNKGWKFEHCNFNDVTTRLR
ENELTYYCCKKDLCNFNEQLENGGTSLSEKTVLLLVTPFLAAAWSLHP*

Gene Symbol:CD59
Accession:NM_000611
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGIQGGSVLFGLLLVLAVFCHSGHSLQCYNCPNPTADCKTAVNCSSDFDACLITKAGLQVYNKGWKFEHCNFNDVTTRLR
ENELTYYCCKKDLCNFNEQLENGGTSLSEKTVLLLVTPFLAAAWSLHP*

Gene Symbol:CD59
Accession:NM_001127227
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGIQGGSVLFGLLLVLAVFCHSGHSLQCYNCPNPTADCKTAVNCSSDFDACLITKAGLQVYNKGWKFEHCNFNDVTTRLR
ENELTYYCCKKDLCNFNEQLENGGTSLSEKTVLLLVTPFLAAAWSLHP*

Gene Symbol:CD59
Accession:NM_203329
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGIQGGSVLFGLLLVLAVFCHSGHSLQCYNCPNPTADCKTAVNCSSDFDACLITKAGLQVYNKGWKFEHCNFNDVTTRLR
ENELTYYCCKKDLCNFNEQLENGGTSLSEKTVLLLVTPFLAAAWSLHP*

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000625878 CLINVAR
dbSNP (RS) rs1554939509 CLINVAR
MedGen C2676767 CLINVAR
NCBI Gene CD59 CLINVAR
OMIM 107271 CLINVAR
  612300 CLINVAR