rs35103459

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs35103459(C;T)

Make rs35103459(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5254330

Gene

HBG2

is a	snp
is	mentioned by
dbSNP	rs35103459
dbSNP (classic)	rs35103459
ClinGen	rs35103459
ebi	rs35103459
HLI	rs35103459
Exac	rs35103459
Gnomad	rs35103459
Varsome	rs35103459
LitVar	rs35103459
Map	rs35103459
PheGenI	rs35103459
Biobank	rs35103459
1000 genomes	rs35103459
hgdp	rs35103459
ensembl	rs35103459
geneview	rs35103459
scholar	rs35103459
google	rs35103459
pharmgkb	rs35103459
gwascentral	rs35103459
openSNP	rs35103459
23andMe	rs35103459
SNPshot	rs35103459
SNPdbe	rs35103459
MSV3d	rs35103459
GWAS Ctlg	rs35103459

Max Magnitude

0

OMIM	142250
Desc
Variant	0034
Related	also

ClinVar
Risk	rs35103459(T;T)
Alt	rs35103459(T;T)
Reference	Rs35103459(C;C)
Significance	Pathogenic
Disease	Cyanosis
Variation	info
Gene	HBG2
CLNDBN	Cyanosis, transient neonatal
Reversed	1
HGVS	NC_000011.9:g.5275560G>A
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016129.22,

[PMID 1385361] A second observation of the fetal methemoglobin variant Hb F-M-Fort Ripley or alpha 2G gamma 2(92)(F8)His----Tyr.

[PMID 2470017] Mutant fetal hemoglobin causing cyanosis in a newborn.

[PMID 2470018] Hemoglobin FM-Fort Ripley: another lesson from the neonate.