Variant (rsID / SNP)

rs193302887

rs193302887 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC37A4. Location: chromosome 11, position 118,900,010. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SLC37A4Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:118900010
Cytoband: 11q23.3
HGVS: NM_001164277.2(SLC37A4):c.70T>C (p.Tyr24His)
Allele change: Missense_Y24H

Associated conditions / phenotypes

Glucose-6-phosphate transport defect

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.