Variant (rsID / SNP)
rs116998555
rs116998555 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WNT10A. Location: chromosome 2, position 219,754,840. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
WNT10AConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:219754840
- Cytoband
- 2q35
- HGVS
- NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys)
- Allele change
- Missense_R171C
Associated conditions / phenotypes
SchC6pf-Schulz-Passarge syndrome|Odonto-onycho-dermal dysplasia|Tooth agenesis, selective, 4|Odonto-onycho-dermal dysplasia|Tooth agenesis, selective, 4
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
