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Variant (rsID / SNP)

rs11568423

SLC7A7

rs11568423 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC7A7. Location: chromosome 14, position 23,244,684. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC7A7Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:23244684
Cytoband
14q11.2
HGVS
NM_003982.4(SLC7A7):c.1064G>A (p.Arg355Gln)
Allele change
Missense_R355Q

Associated conditions / phenotypes

Lysinuric protein intolerance|Autoinflammatory syndrome

Public references

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