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Variant (rsID / SNP)

rs80356491

SLC37A4

rs80356491 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC37A4. Location: chromosome 11, position 118,895,981. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC37A4Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
Deletion
Chromosome / position
11:118895981
Cytoband
11q23.3
HGVS
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)

Associated conditions / phenotypes

Phosphate transport defect|Glucose-6-phosphate transport defect|Inborn genetic diseases|Glycogen storage disease|Glucose-6-phosphate transport defect|Phosphate transport defect|Congenital disorder of glycosylation, type IIw

Public references

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