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Variant (rsID / SNP)

rs186476316

SLC37A4

rs186476316 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC37A4. Location: chromosome 11, position 118,898,467. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC37A4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:118898467
Cytoband
11q23.3
HGVS
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)
Allele change
Missense_R166H

Associated conditions / phenotypes

Glucose-6-phosphate transport defect|Phosphate transport defect|Glucose-6-phosphate transport defect

Public references

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