Variant (rsID / SNP)

rs104894960

rs104894960 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZIC3. Clinical significance in the table: Pathogenic.

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Reference-table entries

ZIC3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq26.3
HGVS: NM_003413.4(ZIC3):c.745C>T (p.Gln249Ter)
Allele change: Nonsense_Q249X

Associated conditions / phenotypes

Heterotaxy, visceral, 1, X-linked

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.