Variant (rsID / SNP)

rs121908121

rs121908121 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WNT10A. Location: chromosome 2, position 219,754,712. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

WNT10APathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:219754712
Cytoband: 2q35
HGVS: NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln)
Allele change: Missense_R128Q

Associated conditions / phenotypes

Odonto-onycho-dermal dysplasia|Tooth agenesis, selective, 4|Tooth agenesis, selective, 4|Odonto-onycho-dermal dysplasia

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.