rs33915217

minus

Geno	Mag	Summary
(C;G)	3	Carrier of a beta-thalassemia mutation
(G;G)	0	common in clinvar

Make rs33915217(C;C)

Reference

GRCh38 38.1/142

Chromosome

11

Position

5226925

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33915217
dbSNP (classic)	rs33915217
ClinGen	rs33915217
ebi	rs33915217
HLI	rs33915217
Exac	rs33915217
Gnomad	rs33915217
Varsome	rs33915217
LitVar	rs33915217
Map	rs33915217
PheGenI	rs33915217
Biobank	rs33915217
1000 genomes	rs33915217
hgdp	rs33915217
ensembl	rs33915217
geneview	rs33915217
scholar	rs33915217
google	rs33915217
pharmgkb	rs33915217
gwascentral	rs33915217
openSNP	rs33915217
23andMe	rs33915217
SNPshot	rs33915217
SNPdbe	rs33915217
MSV3d	rs33915217
GWAS Ctlg	rs33915217

Max Magnitude

3

aka c.92+5G>A

OMIM	141900
Desc
Variant	0357
Related	also

OMIM	141900
Desc
Variant	0358
Related	also

OMIM	141900
Desc
Variant	0359
Related	also

ClinVar
Risk	rs33915217(A;A) rs33915217(C;C) rs33915217(T;T)
Alt	rs33915217(A;A) rs33915217(C;C) rs33915217(T;T)
Reference	Rs33915217(G;G)
Significance	Other
Disease	Beta-plus-thalassemia Beta thalassemia major Beta Thalassemia not provided
Variation	info
Gene	HBB
CLNDBN	Beta-plus-thalassemia Beta thalassemia major beta Thalassemia not provided
Reversed	1
HGVS	NC_000011.9:g.5248155C>A; NC_000011.9:g.5248155C>G; NC_000011.9:g.5248155C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016706.26, RCV000030005.1, RCV000016705.27, RCV000020341.2, RCV000255746.1, RCV000016707.26, RCV000030004.3,

[PMID 2539344] Hb Monroe or alpha 2 beta 230(B12)Arg----Thr, a variant associated with beta-thalassemia due to A G----C substitution adjacent to the donor splice site of the first intron.

[PMID 3021139] Beta thalassemia due to a novel mutation in IVS 1 sequence donor site consensus sequence creating a restriction site.

[PMID 3671081 ] Expression of a beta thalassemia gene with abnormal splicing.

[PMID 10815781] Beta-thalassaemia in Cubans: novel allele increases the genetic diversity at the HBB locus in the Caribbean.

[PMID 14576320 ] Intrinsic differences between authentic and cryptic 5' splice sites.

[PMID 20704537] ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of beta-thalassaemia.

[PMID 2439149] A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing.

[PMID 2577233 ] The molecular basis of beta thalassaemia in Bulgaria.

[PMID 15278762] Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene.

[PMID 1463768] Heterozygosity for the IVS-I-5 (G-->C) mutation with a G-->A change at codon 18 (Val-->Met; Hb Baden) in cis and a T-->G mutation at codon 126 (Val-->Gly; Hb Dhonburi) in trans resulting in a thalassemia intermedia.

[PMID 2004023] Sickle cell-beta+ thalassaemia in Orissa State, India.

[PMID 6188062] Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes.

[PMID 6714226 ] Molecular characterization of seven beta-thalassemia mutations in Asian Indians.