Variant (rsID / SNP)

rs104894963

rs104894963 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZIC3. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ZIC3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq26.3
HGVS: NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala)
Allele change: Missense_P217A

Associated conditions / phenotypes

Congenital heart defects, multiple types, 1, X-linked|Heterotaxy, visceral, 1, X-linked|VACTERL association, X-linked, with or without hydrocephalus|Congenital heart defects 1, nonsyndromic, 1

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.