Variant (rsID / SNP)

rs6723697

rs6723697 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PXDN. Location: chromosome 2, position 1,651,959. Clinical significance in the table: Benign.

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Reference-table entries

PXDNBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:1651959
Cytoband: 2p25.3
HGVS: NM_012293.3(PXDN):c.3593G>A (p.Arg1198Gln)
Allele change: Missense_R1198Q

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.