Variant (rsID / SNP)

rs143708376

rs143708376 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GFI1. Location: chromosome 1, position 92,941,657. Clinical significance in the table: Benign.

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Reference-table entries

GFI1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:92941657
Cytoband: 1p22.1
HGVS: NM_005263.5(GFI1):c.1198C>T (p.Leu400Phe)
Allele change: Missense_L400F

Associated conditions / phenotypes

Neutropenia, severe congenital, 2, autosomal dominant

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.