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Variant (rsID / SNP)

rs587777727

JAGN1

rs587777727 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JAGN1. Location: chromosome 3, position 9,932,409. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

JAGN1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:9932409
Cytoband
3p25.3
HGVS
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile)
Allele change
Missense_M1I

Associated conditions / phenotypes

Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency|Severe congenital neutropenia

Public references

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