Variant (rsID / SNP)

rs756457861

rs756457861 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A10. Location: chromosome 20, position 45,354,360. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC2A10Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:45354360
Cytoband: 20q13.12
HGVS: NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter)
Allele change: Nonsense_R229X

Associated conditions / phenotypes

Arterial tortuosity syndrome|Cardiovascular phenotype

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.