Variant (rsID / SNP)

rs1729995

rs1729995 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPOX. Location: chromosome 3, position 98,304,467. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CPOXBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:98304467
Cytoband: 3q11.2
HGVS: NM_000097.7(CPOX):c.990A>G (p.Glu330=)
Allele change: Synonymous_E330E

Associated conditions / phenotypes

Hereditary coproporphyria

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.