rs2070074

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	1.2	harmless ancestral galactosemia variant carrier
(G;G)	1.5	harmless ancestral form

Reference

GRCh38 38.1/141

Chromosome

9

Position

34649445

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs2070074
dbSNP (classic)	rs2070074
ClinGen	rs2070074
ebi	rs2070074
HLI	rs2070074
Exac	rs2070074
Gnomad	rs2070074
Varsome	rs2070074
LitVar	rs2070074
Map	rs2070074
PheGenI	rs2070074
Biobank	rs2070074
1000 genomes	rs2070074
hgdp	rs2070074
ensembl	rs2070074
geneview	rs2070074
scholar	rs2070074
google	rs2070074
pharmgkb	rs2070074
gwascentral	rs2070074
openSNP	rs2070074
23andMe	rs2070074
SNPshot	rs2070074
SNPdbe	rs2070074
MSV3d	rs2070074
GWAS Ctlg	rs2070074

Merged from

Rs17845454

GMAF

0.05464

Max Magnitude

1.5

aka c.940A>G, p.Asn314Asp, N314D, and N205D

A 2017 publication states that the rs2070074(G) variant was originally described as pathogenic (when inherited recessively) for galactosemia, but then it was later reclassified as benign when it was discovered to be in linkage disequilibrium with the actual pathogenic variant (rs111033640; c.-119_-116del).[PMID 28771245 ]

?

(A;A) (A;G) (G;G)

28

OMIM	606999
Desc	GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
Variant
Related	also

OMIM	606999
Desc
Variant	0005
Related	also

ClinVar
Risk	Rs2070074(G;G)
Alt	Rs2070074(G;G)
Reference	Rs2070074(A;A)
Significance	Other
Disease	GALT POLYMORPHISM (DUARTE GALT POLYMORPHISM (LOS ANGELES Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided not specified Galactosemia
Variation	info
Gene	GALT
CLNDBN	GALT POLYMORPHISM (DUARTE, D2) GALT POLYMORPHISM (LOS ANGELES, D1) Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided not specified Galactosemia
Reversed	0
HGVS	NC_000009.11:g.34649442A>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003797.4, RCV000003804.2, RCV000022233.6, RCV000078243.8, RCV000128642.2, RCV000243200.1, RCV000309989.1,

[PMID 18805939 ] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

[PMID 2011574 ] Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

[PMID 8198125 ] A common mutation associated with the Duarte galactosemia allele.

[PMID 10424825 ] Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles.

[PMID 19224951 ] Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.

Galactosemia