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Variant (rsID / SNP)

rs151261004

SLC7A7

rs151261004 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC7A7. Location: chromosome 14, position 23,248,052. 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
14:23248052
Cytoband
14q11.2
HGVS
NM_003982.4(SLC7A7):c.720A>C (p.Ser240=)
Allele change
Synonymous_S240S

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.