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Variant (rsID / SNP)

rs200478425

G6PC3

rs200478425 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to G6PC3. Location: chromosome 17, position 42,153,148. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

G6PC3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:42153148
Cytoband
17q21.31
HGVS
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg)
Allele change
Silent

Associated conditions / phenotypes

Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

Public references

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