Variant (rsID / SNP)

rs121908652

rs121908652 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WNT4. Location: chromosome 1, position 22,456,175. Clinical significance in the table: Pathogenic.

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Reference-table entries

WNT4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:22456175
Cytoband: 1p36.12
HGVS: NM_030761.5(WNT4):c.247C>T (p.Arg83Trp)
Allele change: Missense_R83W

Associated conditions / phenotypes

Mullerian aplasia and hyperandrogenism

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.