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Variant (rsID / SNP)

rs17847484

SLC19A2

rs17847484 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC19A2. Location: chromosome 1, position 169,437,392. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SLC19A2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
1:169437392
Cytoband
1q24.2
HGVS
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr)
Allele change
Missense_I441T

Associated conditions / phenotypes

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

Public references

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