Variant (rsID / SNP)

rs386833823

rs386833823 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC7A7. Location: chromosome 14, position 23,248,059. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC7A7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:23248059
Cytoband: 14q11.2
HGVS: NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe)
Allele change: Missense_S238F

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.