Variant (rsID / SNP)

rs121912696

rs121912696 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC3A1. Location: chromosome 2, position 44,547,563. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SLC3A1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:44547563
Cytoband: 2p21
HGVS: NM_000341.4(SLC3A1):c.1843C>A (p.Pro615Thr)
Allele change: Missense_P615T

Associated conditions / phenotypes

Cystinuria

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.