Gene Name :
ABO
Gene Id :
ENSG00000175164
Protein Id :
P16442
Variant details
| Gene Alias : | "A3GALNT, A3GALT1" | ||||||||||||||
| ISBT Version : | v1.1 171023 | ||||||||||||||
| Variant phenotype : | Bweak | ||||||||||||||
| Phenotype category : | Weak Phenotype | ||||||||||||||
| Phenotype Description : | NA | ||||||||||||||
| Variant Type : | Single Nucleotide Variation | ||||||||||||||
| Reference Allele name : | ABO*B.01 | ||||||||||||||
| Allele name : | ABO*BW.26 | ||||||||||||||
| Reference allele : | C | ||||||||||||||
| Alternate allele : | A | ||||||||||||||
| Nucleotide_Change : | c.53G>T | ||||||||||||||
| Protein Change : | p.Arg18Leu | ||||||||||||||
| HGVS nomenclature : |
|
||||||||||||||
| External Variation ID : | rs1008708453 | ||||||||||||||
Gene Alias :
"A3GALNT, A3GALT1"
ISBT Version :
v1.1 171023
Variant phenotype :
Bweak
Phenotype category :
Weak Phenotype
Phenotype Description :
NA
Variant Type :
Single Nucleotide Variation
Reference Allele name :
ABO*B.01
Allele name :
ABO*BW.26
Reference allele :
C
Alternate allele :
A
Nucleotide Change :
c.53G>T
Protein Change :
p.Arg18Leu
HGVS nomenclature :
| Nucleotide |
|---|
| NC_000009.11:g.136137547C>A |
| NC_000009.12:g.133262144C>A |
| Protein |
|---|
| NP_065202.2:p.Arg18Leu |
External Variation ID :
Global Allele Frequencies
| gnomAD (v2.1.1 - Exomes) : | 0.01 | |||||
| ExAC : | ||||||
| ESP 6500 : | ||||||
| 1000 Genomes Project : | 0.01 | |||||
| Greater Middle Eastern Project : | NA | |||||
| Genome Asia : | ||||||
| Iranome : | ||||||
gnomAD (v2.1.1 - Exomes) :
0.01
ExAC :
NA
ESP 6500 :
NA
1000 Genomes Project :
0.01
Greater Middle Eastern Project :
NA
Clinical Significance
| Clinical relevance : | NA | |||||
| Ancestry : | NA | |||||
| Genotype Phenotype Details : | NA | |||||
| Validation Status : | Validated | |||||
| Validation details : | Serology and Molecular Genotyping | |||||
Clinical relevance :
NA
Ancestry :
NA
Genotype Phenotype Details :
NA
Validation Status :
Validated
Validation details :
Serology and Molecular Genotyping
References :
"Hosseini-Maaf B, Irshaid NM, Hellberg A, Wagner T, Levene C, Hustinx H, Steffensen R, Chester MA, Olsson ML. New and unusual O alleles at the ABO locus are implicated in unexpected blood group phenotypes. Transfusion. 2005 Jan;45(1):70-81. doi: 10.1111/j.1537-2995.2005.04195.x. PMID: 15647021.
ISBT-Red Cell Immunogenetics and Blood Group Terminology"
ISBT-Red Cell Immunogenetics and Blood Group Terminology"