Variant (rsID / SNP)

rs572115942

rs572115942 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHKG2. Location: chromosome 16, position 30,768,035. Clinical significance in the table: Pathogenic.

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Reference-table entries

PHKG2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:30768035
Cytoband: 16p11.2
HGVS: NM_000294.3(PHKG2):c.926G>A (p.Arg309Gln)
Allele change: Missense_R309Q

Associated conditions / phenotypes

Mauriac syndrome

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.