Variant (rsID / SNP)

rs121908540

rs121908540 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC19A2. Location: chromosome 1, position 169,454,853. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC19A2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:169454853
Cytoband: 1q24.2
HGVS: NM_006996.3(SLC19A2):c.152C>T (p.Pro51Leu)
Allele change: Missense_P51L

Associated conditions / phenotypes

Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

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.