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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
ReferenceGRCh38 38.1/141
Chromosome9
Position34649445
GeneGALT
is asnp
is mentioned by
dbSNPrs2070074
ebirs2070074
HLIrs2070074
Exacrs2070074
Varsomers2070074
Maprs2070074
PheGenIrs2070074
hapmaprs2070074
1000 genomesrs2070074
hgdprs2070074
ensemblrs2070074
gopubmedrs2070074
geneviewrs2070074
scholarrs2070074
googlers2070074
pharmgkbrs2070074
gwascentralrs2070074
openSNPrs2070074
23andMers2070074
23andMe allrs2070074
SNP Nexus

SNPshotrs2070074
SNPdbers2070074
MSV3drs2070074
GWAS Ctlgrs2070074
Merged fromRs17845454
GMAF0.05464
Max Magnitude1.5
? (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 Pathogenic
Disease GALT POLYMORPHISM (DUARTE GALT POLYMORPHISM (LOS ANGELES Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided
Variation info
Gene GALT
CLNDBN GALT POLYMORPHISM (DUARTE, D2) GALT POLYMORPHISM (LOS ANGELES, D1) Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided
Reversed 0
HGVS NC_000009.11:g.34649442A>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003797.4, RCV000003804.2, RCV000022233.6, RCV000078243.6, RCV000128642.2,



[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.


GET Evidence
GALT-N314D
aa_change Asn314Asp
aa_change_short N314D
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.0716676
summary This variant has an allele frequency of ~8% and is ancestral to "Duarte" / "Duarte 2" and "Duarte 1"/"Los Angeles" galactosemia variants. This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity. Carney et al. instead implicate a 4 base deletion on the 5' of the GALT gene as being causal and linked to this variant. Galactosemia is typically screened and detected in infants and causes early, severe but nonspecific symptoms (digestive problems, lethargy, failure to thrive).



Galactosemia