rs111033640
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 7 | Galactosemia (homozygous Duarte mutation) |
| (-;GTCA) | 3 | carrier of a Duarte galactosemia allele |
| (CAGT;CAGT) | 0 | common in clinvar |
| Make rs111033640(GTCA;GTCA) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 9 |
| Position | 34646586 |
| Gene | GALT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033640 |
| dbSNP (classic) | rs111033640 |
| ClinGen | rs111033640 |
| ebi | rs111033640 |
| HLI | rs111033640 |
| Exac | rs111033640 |
| Gnomad | rs111033640 |
| Varsome | rs111033640 |
| LitVar | rs111033640 |
| Map | rs111033640 |
| PheGenI | rs111033640 |
| Biobank | rs111033640 |
| 1000 genomes | rs111033640 |
| hgdp | rs111033640 |
| ensembl | rs111033640 |
| geneview | rs111033640 |
| scholar | rs111033640 |
| rs111033640 | |
| pharmgkb | rs111033640 |
| gwascentral | rs111033640 |
| openSNP | rs111033640 |
| 23andMe | rs111033640 |
| SNPshot | rs111033640 |
| SNPdbe | rs111033640 |
| MSV3d | rs111033640 |
| GWAS Ctlg | rs111033640 |
| Max Magnitude | 7 |
aka c.-119_-116del
rs111033640 represents a variant consisting of a 4bp deletion occurring in the promoter region of the GALT gene. This variant is tightly linked to the classic Duarte variant (rs2070074); studies over the years have concluded that this 4-bp deletion, rs111033640, is actually the causal mutation in Duarte galactosemia and that rs2070074 is most likely a neutral polymorphism that just happened to be discovered first.OMIM
In 2018, a (relatively small) study concluded that infants carrying only one Duarte variant (i.e. heterozygotes) who are fed galactose-containing milk don't show any differences at ages 6-12 compared with those fed normal milk.10.1542/peds.2018-2516
| ClinVar | |
|---|---|
| Risk | Rs111033640(-;-) Rs111033640(CAGT;CAGT) rs111033640(TCAG;TCAG) |
| Alt | Rs111033640(-;-) Rs111033640(CAGT;CAGT) rs111033640(TCAG;TCAG) |
| Reference | rs111033640(GTCA;GTCA) |
| Significance | Other |
| Disease | Classical galactosemia Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided |
| Variation | info |
| Gene | GALT |
| CLNDBN | Classical galactosemia, homozygous Duarte-type Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided |
| Reversed | 0 |
| HGVS | NC_000009.11:g.34646583_34646586delGTCA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000003809.3, RCV000022037.3, RCV000128642.2, RCV000185922.3, |
