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Variant (rsID / SNP)

rs387907231

WNT7A

rs387907231 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WNT7A. Location: chromosome 3, position 13,860,881. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

WNT7APathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:13860881
Cytoband
3p25.1
HGVS
NM_004625.4(WNT7A):c.610G>A (p.Gly204Ser)
Allele change
Missense_G204S

Associated conditions / phenotypes

Schinzel phocomelia syndrome

Public references

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