Variant (rsID / SNP)

rs199948078

rs199948078 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHKB. Location: chromosome 16, position 47,730,322. Clinical significance in the table: no interpretation for the single variant.

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Reference-table entries

PHKBOther

Clinical significance (as recorded): no interpretation for the single variant
Variant type: single nucleotide variant
Chromosome / position: 16:47730322
Cytoband: 16q12.1
HGVS: NM_000293.3(PHKB):c.2926G>T (p.Glu976Ter)
Allele change: Nonsense_E969X

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.