Variant (rsID / SNP)

rs199599532

rs199599532 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A10. Location: chromosome 20, position 45,355,565. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SLC2A10Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 20:45355565
Cytoband: 20q13.12
HGVS: NM_030777.4(SLC2A10):c.1351T>G (p.Cys451Gly)
Allele change: Missense_C451G

Associated conditions / phenotypes

Arterial tortuosity syndrome

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.