Variant (rsID / SNP)

rs142431229

rs142431229 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A10. Location: chromosome 20, position 45,354,305. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SLC2A10Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:45354305
Cytoband: 20q13.12
HGVS: NM_030777.4(SLC2A10):c.630C>T (p.Gly210=)
Allele change: Synonymous_G210G

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.