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rs28928876

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs28928876(C;T)
Make rs28928876(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position177095
GeneHBA1
is asnp
is mentioned by
dbSNPrs28928876
ebirs28928876
HLIrs28928876
Exacrs28928876
Varsomers28928876
Maprs28928876
PheGenIrs28928876
hapmaprs28928876
1000 genomesrs28928876
hgdprs28928876
ensemblrs28928876
gopubmedrs28928876
geneviewrs28928876
scholarrs28928876
googlers28928876
pharmgkbrs28928876
gwascentralrs28928876
openSNPrs28928876
23andMers28928876
23andMe allrs28928876
SNP Nexus

SNPshotrs28928876
SNPdbers28928876
MSV3drs28928876
GWAS Ctlgrs28928876
Max Magnitude0
OMIM141800
DescHEMOGLOBIN M (IWATE)
Variant0093
Relatedalso
Neighborrs28928875
Distance39
Neighborrs28928879
Distance22
OMIM141800
Desc
Variant0220
Relatedalso


ClinVar
Risk rs28928876(A,G,T;A,G,T)
Alt rs28928876(A,G,T;A,G,T)
Reference rs28928876(C;C)
Significance Other
Disease HEMOGLOBIN AUCKLAND HEMOGLOBIN M (IWATE) HEMOGLOBIN M (KANKAKEE) HEMOGLOBIN M (OLDENBURG) HEMOGLOBIN M (SENDAI)
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN AUCKLAND HEMOGLOBIN M (IWATE) HEMOGLOBIN M (KANKAKEE) HEMOGLOBIN M (OLDENBURG) HEMOGLOBIN M (SENDAI)
Reversed 0
HGVS NC_000016.9:g.227094C>A; NC_000016.9:g.227094C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017239.2, RCV000017103.4, RCV000017104.4, RCV000017105.4, RCV000017106.4,



[PMID 235432] Electron-spin resonance of nitrosyl haemoglobins: normal alpha and beta chains and mutants Hb M Iwate and Hb Zurich.


[PMID 3026948] Hemoglobin M Iwate is caused by a C----T transition in codon 87 of the human alpha 1-globin gene.


[PMID 3957697] Hb M Iwate [alpha (2)87His----Tyr beta 2]: de novo mutation in an Irish family.


[PMID 4164417] Heterogeneity of heavy (gamma) chain preparations from human gamma G-immunoglobulins.


[PMID 4625305] Congenital methemoglobinemia due to hemoglobin M.


[PMID 5326300] The amino acid substitution in hemoglobin M-Iwate.


[PMID 5946634] The structural abnormality of hemoglobin M Kankakee.


[PMID 9322075] Hb Auckland [alpha 87(F8) His-->Asn]: a new mutation of the proximal histidine identified by electrospray mass spectrometry.


[PMID 18310146] A novel hemoglobin, Bonn, causes falsely decreased oxygen saturation measurements in pulse oximetry.