Variant (rsID / SNP)
rs772886076
rs772886076 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC19A2. Location: chromosome 1, position 169,455,016. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SLC19A2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:169455016
- Cytoband
- 1q24.2
- HGVS
- NM_006996.3(SLC19A2):c.-12C>G
- Allele change
- Silent
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.
