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Variant (rsID / SNP)

rs2303690

ELSPBP1

rs2303690 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELSPBP1. Location: chromosome 19, position 48,525,507. The table records no clinical significance for this variant.

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Reference-table entries

ELSPBP1Not classified
Variant type
missense_variant
Chromosome / position
19:48525507
HGVS
NM_022142.5,c.595G>A,p.Glu199Lys
Allele change
Missense_E199K

Public references

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