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rs2070074

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome9
Position34649445
GeneGALT
is asnp
is mentioned by
dbSNPrs2070074
dbSNP (old)rs2070074
ClinGenrs2070074
ebirs2070074
HLIrs2070074
Exacrs2070074
Gnomadrs2070074
Varsomers2070074
Maprs2070074
PheGenIrs2070074
Biobankrs2070074
1000 genomesrs2070074
hgdprs2070074
ensemblrs2070074
gopubmedrs2070074
geneviewrs2070074
scholarrs2070074
googlers2070074
pharmgkbrs2070074
gwascentralrs2070074
openSNPrs2070074
23andMers2070074
23andMe allrs2070074
SNPshotrs2070074
SNPdbers2070074
MSV3drs2070074
GWAS Ctlgrs2070074
Merged fromRs17845454
GMAF0.05464
Max Magnitude1.5

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
OMIM606999
DescGALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
Variant
Relatedalso
OMIM606999
Desc
Variant0005
Relatedalso


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 18805939OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.


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


[PMID 8198125OA-icon.png] A common mutation associated with the Duarte galactosemia allele.


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


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


Galactosemia