Variant (rsID / SNP)

rs193302888

rs193302888 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC37A4. Location: chromosome 11, position 118,898,391. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SLC37A4Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:118898391
Cytoband: 11q23.3
HGVS: NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu)
Allele change: Missense_P191L

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.