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Variant (rsID / SNP)

rs201489069

SLC19A2

rs201489069 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC19A2. Location: chromosome 1, position 169,446,405. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC19A2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:169446405
Cytoband
1q24.2
HGVS
NM_006996.3(SLC19A2):c.795C>T (p.Pro265=)
Allele change
Synonymous_P265P

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.