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Variant (rsID / SNP)

rs2259633

DEUP1

rs2259633 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DEUP1. Location: chromosome 11, position 93,141,580. The table records no clinical significance for this variant.

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Reference-table entries

DEUP1Not classified
Variant type
missense_variant
Chromosome / position
11:93141580
HGVS
NM_181645.4,c.1510C>A,p.Gln504Lys
Allele change
Missense_Q504K

Public references

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