Variant (rsID / SNP)

rs104893832

rs104893832 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WNT7A. Location: chromosome 3, position 13,896,274. Clinical significance in the table: Pathogenic.

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Reference-table entries

WNT7APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:13896274
Cytoband: 3p25.1
HGVS: NM_004625.4(WNT7A):c.325G>A (p.Ala109Thr)
Allele change: Missense_A109T

Associated conditions / phenotypes

Fuhrmann syndrome

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.