Variant (rsID / SNP)
rs139270936
rs139270936 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC7A7. Location: chromosome 14, position 23,282,269. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SLC7A7Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:23282269
- Cytoband
- 14q11.2
- HGVS
- NM_003982.4(SLC7A7):c.339A>C (p.Gly113=)
- Allele change
- Synonymous_G113G
Associated conditions / phenotypes
Lysinuric protein intolerance
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.