Variant (rsID / SNP)

rs17330993

rs17330993 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GYG2. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GYG2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xp22.33
HGVS: NM_001079855.2(GYG2):c.1024C>T (p.Arg342Cys)
Allele change: Missense_R342C

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.