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Variant (rsID / SNP)

rs142639587

SLC2A10

rs142639587 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A10. Location: chromosome 20, position 45,358,044. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC2A10Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:45358044
Cytoband
20q13.12
HGVS
NM_030777.4(SLC2A10):c.1464C>T (p.Leu488=)
Allele change
Synonymous_L488L

Associated conditions / phenotypes

Cardiovascular phenotype|Arterial tortuosity syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.