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Variant (rsID / SNP)

rs2234675

PAX3

rs2234675 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAX3. Location: chromosome 2, position 223,085,955. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PAX3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:223085955
Cytoband
2q36.1
HGVS
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys)
Allele change
Missense_T315K

Associated conditions / phenotypes

Congenital diaphragmatic hernia|Waardenburg syndrome|Craniofacial-deafness-hand syndrome|Waardenburg syndrome type 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.