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Variant (rsID / SNP)

rs2385405

RESP18

rs2385405 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RESP18. Location: chromosome 2, position 220,197,321. The table records no clinical significance for this variant.

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Reference-table entries

RESP18Not classified
Variant type
missense_variant
Chromosome / position
2:220197321
HGVS
NM_001007089.4,c.157G>A,p.Glu53Lys
Allele change
Missense_E53K

Public references

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