Variant (rsID / SNP)

rs121908172

rs121908172 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A10. Location: chromosome 20, position 45,354,951. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SLC2A10Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:45354951
Cytoband: 20q13.12
HGVS: NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp)
Allele change: Missense_G426W

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.