Variant (rsID / SNP)

rs35365817

rs35365817 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JAGN1. Location: chromosome 3, position 9,934,753. Clinical significance in the table: Benign.

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Reference-table entries

JAGN1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:9934753
Cytoband: 3p25.3
HGVS: NM_032492.4(JAGN1):c.244A>G (p.Ile82Val)
Allele change: Missense_I82V

Associated conditions / phenotypes

Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

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.