Variant (rsID / SNP)

rs147232392

rs147232392 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZIC3. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ZIC3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq26.3
HGVS: NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys)
Allele change: Missense_G17C

Associated conditions / phenotypes

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.