Variant (rsID / SNP)

rs121912691

rs121912691 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC3A1. Location: chromosome 2, position 44,539,792. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SLC3A1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:44539792
Cytoband: 2p21
HGVS: NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
Allele change: Missense_M467T

Associated conditions / phenotypes

Cystinuria|See cases

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.