Variant (rsID / SNP)
rs139776370
rs139776370 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC7A7. Location: chromosome 14, position 23,282,374. 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
- 14:23282374
- Cytoband
- 14q11.2
- HGVS
- NM_003982.4(SLC7A7):c.234C>T (p.Val78=)
- Allele change
- Synonymous_V78V
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.