Variant (rsID / SNP)

rs1061040

rs1061040 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC7A7. Location: chromosome 14, position 23,242,828. Clinical significance in the table: Benign.

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Reference-table entries

SLC7A7Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:23242828
Cytoband: 14q11.2
HGVS: NM_003982.4(SLC7A7):c.1527A>G (p.Lys509=)
Allele change: Synonymous_K509K

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.