Variant (rsID / SNP)

rs386833815

rs386833815 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC7A7. Location: chromosome 14, position 23,282,190. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SLC7A7Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:23282190
Cytoband: 14q11.2
HGVS: NM_003982.4(SLC7A7):c.418G>C (p.Ala140Pro)
Allele change: Missense_A140P

Associated conditions / phenotypes

Lysinuric protein intolerance

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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