Variant (rsID / SNP)

rs138416154

rs138416154 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHKG2. Location: chromosome 16, position 30,762,922. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PHKG2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:30762922
Cytoband: 16p11.2
HGVS: NM_000294.3(PHKG2):c.324C>T (p.Asp108=)
Allele change: Synonymous_D108D

Associated conditions / phenotypes

Glycogen storage disease IXc

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.