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rs41397847

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 3 Alpha-thalassemia allele carrier
(T;T) 0 common in complete genomics


Make rs41397847(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position173548
GeneHBA2
is asnp
is mentioned by
dbSNPrs41397847
ebirs41397847
HLIrs41397847
Exacrs41397847
Varsomers41397847
Maprs41397847
PheGenIrs41397847
hapmaprs41397847
1000 genomesrs41397847
hgdprs41397847
ensemblrs41397847
gopubmedrs41397847
geneviewrs41397847
scholarrs41397847
googlers41397847
pharmgkbrs41397847
gwascentralrs41397847
openSNPrs41397847
23andMers41397847
23andMe allrs41397847
SNP Nexus

SNPshotrs41397847
SNPdbers41397847
MSV3drs41397847
GWAS Ctlgrs41397847
Max Magnitude3
OMIM141850
Desc
Variant0005
Relatedalso
OMIM141850
Desc
Variant0067
Relatedalso
ClinVar
Risk rs41397847(A,C,G;A,C,G)
Alt rs41397847(A,C,G;A,C,G)
Reference rs41397847(T;T)
Significance Other
Disease Hemoglobin Quong Sze HEMOGLOBIN PLASENCIA
Variation info
Gene HBA2
CLNDBN Hemoglobin Quong Sze HEMOGLOBIN PLASENCIA
Reversed 0
HGVS NC_000016.9:g.223547T>C; NC_000016.9:g.223547T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016897.1, RCV000016981.1,


[PMID 1726096] Detection of the Hb Quong Sze mutation in a Chinese family by selective amplification of the alpha 2-globin gene and restriction map analysis with Msp I.


[PMID 6826718OA-icon.png] alpha-Thalassemia caused by an unstable alpha-globin mutant.


[PMID 7070526] Globin structural mutant alpha 125Leu leads to Pro is a novel cause of alpha-thalassaemia.


[PMID 7515267] Alpha and beta thalassaemia among Chinese children in Guangxi Province, P.R. China: molecular and haematological characterization.


[PMID 15921163] A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu--Arg (alpha2).


[PMID 21077766] A dyserythropoietic anemia associated with homozygous Hb Plasencia [alpha125(H8)Leu-->Arg (alpha2)] (HBA2:c.377T>G), a variant with an unstable alpha chain.


[PMID 20854117] Hb St. Truiden [alpha68(E17)Asn-->His] and Hb Westeinde [alpha125(H8)Leu-->Gln]: two new abnormalities of the alpha2-globin gene.