Variant (rsID / SNP)

rs7578605

rs7578605 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PXDN. Location: chromosome 2, position 1,643,208. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PXDNBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:1643208
Cytoband: 2p25.3
HGVS: NM_012293.3(PXDN):c.3953-14T>C
Allele change: Silent

Associated conditions / phenotypes

Anterior segment dysgenesis 7

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.