Variant (rsID / SNP)

rs118203968

rs118203968 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to G6PC3. Location: chromosome 17, position 42,153,128. Clinical significance in the table: Pathogenic.

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Reference-table entries

G6PC3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:42153128
Cytoband: 17q21.31
HGVS: NM_138387.4(G6PC3):c.758G>A (p.Arg253His)
Allele change: Silent

Associated conditions / phenotypes

Autosomal recessive severe congenital neutropenia due to G6PC3 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.