Variant (rsID / SNP)

rs117338939

rs117338939 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PGAP2. Location: chromosome 11, position 3,846,253. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PGAP2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:3846253
Cytoband: 11p15.4
HGVS: NM_014489.4(PGAP2):c.712C>T (p.Arg238Cys)
Allele change: Missense_R195C

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.