Variant (rsID / SNP)

rs60794845

rs60794845 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DES. Location: chromosome 2, position 220,283,321. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

DESLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:220283321
Cytoband: 2q35
HGVS: NM_001927.4(DES):c.137C>A (p.Ser46Tyr)
Allele change: Missense_S46Y

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.