Variant (rsID / SNP)

rs386833805

rs386833805 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC7A7. Location: chromosome 14, position 23,243,186. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SLC7A7Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Duplication
Chromosome / position: 14:23243186
Cytoband: 14q11.2
HGVS: NM_003982.4(SLC7A7):c.1381_1384dup (p.Arg462fs)

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.