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Variant (rsID / SNP)

rs193302889

SLC37A4

rs193302889 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC37A4. Location: chromosome 11, position 118,899,999. 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
11:118899999
Cytoband
11q23.3
HGVS
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)
Allele change
Missense_N27K

Associated conditions / phenotypes

Glycogen storage disease, type I|6 conditions|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.