ZIC3 Chromosome X
Zic family zinc finger 3
Upload your DNA to see your personal genotypes for variants in ZIC3.
What This Gene Does
This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Zinc fingers C2H2-type|ZIC family zinc fingers"
Locus Type
gene with protein product
Location
Xq26.3
Ensembl
ENSG00000156925
Associated Conditions (10)
Heterotaxy
visceral
1
X-linked
VACTERL association
with or without hydrocephalus
ZIC3-related disorder
Inborn genetic diseases
Congenital heart defects
multiple types
Key Variants
RS1034877221
Conflicting classifications of pathogenicity
Heterotaxy, visceral, 1
Health Risk
RS143990850
Conflicting classifications of pathogenicity
Heterotaxy, visceral, 1
Health Risk
RS369721947
Conflicting classifications of pathogenicity
Heterotaxy, visceral, 1
Health Risk
RS370928726
Conflicting classifications of pathogenicity
Heterotaxy, visceral, 1
Health Risk
RS748325646
Conflicting classifications of pathogenicity
Heterotaxy, visceral, 1
Health Risk
RS755343529
Conflicting classifications of pathogenicity
Heterotaxy, visceral, 1
Health Risk
RS763534805
Conflicting classifications of pathogenicity
Heterotaxy, visceral, 1
Health Risk
RS775549541
Conflicting classifications of pathogenicity
Heterotaxy, visceral, 1
Health Risk
RS78870836
Conflicting classifications of pathogenicity
VACTERL association, X-linked, with or without hydrocephalus
Health Risk
RS1602743059
Likely pathogenic
Heterotaxy, visceral, 1
Health Risk
RS2124185590
Likely pathogenic
Heterotaxy, visceral, 1
Health Risk
RS2521149676
Likely pathogenic
ZIC3-related disorder, ZIC3-related disorder
Health Risk
All Variants (42)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1034877221 | Health Risk | Conflicting classifications of pathogenicity | Heterotaxy, visceral, 1 |
| RS143990850 | Health Risk | Conflicting classifications of pathogenicity | Heterotaxy, visceral, 1 |
| RS369721947 | Health Risk | Conflicting classifications of pathogenicity | Heterotaxy, visceral, 1 |
| RS370928726 | Health Risk | Conflicting classifications of pathogenicity | Heterotaxy, visceral, 1 |
| RS748325646 | Health Risk | Conflicting classifications of pathogenicity | Heterotaxy, visceral, 1 |
| RS755343529 | Health Risk | Conflicting classifications of pathogenicity | Heterotaxy, visceral, 1 |
| RS763534805 | Health Risk | Conflicting classifications of pathogenicity | Heterotaxy, visceral, 1 |
| RS775549541 | Health Risk | Conflicting classifications of pathogenicity | Heterotaxy, visceral, 1 |
| RS78870836 | Health Risk | Conflicting classifications of pathogenicity | VACTERL association, X-linked, with or without hydrocephalus |
| RS1602743059 | Health Risk | Likely pathogenic | Heterotaxy, visceral, 1 |
| RS2124185590 | Health Risk | Likely pathogenic | Heterotaxy, visceral, 1 |
| RS2521149676 | Health Risk | Likely pathogenic | ZIC3-related disorder, ZIC3-related disorder |
| RS2521154725 | Health Risk | Likely pathogenic | Heterotaxy, visceral, 1 |
| RS2521154915 | Health Risk | Likely pathogenic | — |
| RS2521155029 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS886041111 | Health Risk | Likely pathogenic | Heterotaxy, visceral, 1 |
| RS104894960 | Health Risk | Pathogenic | Heterotaxy, visceral, 1 |
| RS104894961 | Health Risk | Pathogenic | Heterotaxy, visceral, 1 |
| RS104894962 | Health Risk | Pathogenic | Heterotaxy, visceral, 1 |
| RS1203069392 | Health Risk | Pathogenic | Heterotaxy, visceral, 1 |
| RS122462165 | Health Risk | Pathogenic | Heterotaxy, visceral, 1 |
| RS122462166 | Health Risk | Pathogenic | Heterotaxy, visceral, 1 |
| RS122463167 | Health Risk | Pathogenic | Heterotaxy, visceral, 1 |
| RS122463168 | Health Risk | Pathogenic | Heterotaxy, visceral, 1 |
| RS1556029841 | Health Risk | Pathogenic | Heterotaxy, visceral, 1 |
| RS1569345504 | Health Risk | Pathogenic | Heterotaxy, visceral, 1 |
| RS1569345723 | Health Risk | Pathogenic | Heterotaxy, visceral, 1 |
| RS1569345742 | Health Risk | Pathogenic | Heterotaxy, visceral, 1 |
| RS1602742808 | Health Risk | Pathogenic | Heterotaxy, visceral, 1 |
| RS1931360759 | Health Risk | Pathogenic | Heterotaxy, visceral, 1 |
| RS2124184171 | Health Risk | Pathogenic | Heterotaxy, visceral, 1 |
| RS2124184204 | Health Risk | Pathogenic | Heterotaxy, visceral, 1 |
| RS2124184319 | Health Risk | Pathogenic | Heterotaxy, visceral, 1 |
| RS2521147113 | Health Risk | Pathogenic | Heterotaxy, visceral, 1 |
| RS2521148992 | Health Risk | Pathogenic | Heterotaxy, visceral, 1 |
| RS2521149558 | Health Risk | Pathogenic | Heterotaxy, visceral, 1 |
| RS2521150121 | Health Risk | Pathogenic | Heterotaxy, visceral, 1 |
| RS2521150898 | Health Risk | Pathogenic | Heterotaxy, visceral, 1 |
| RS387906498 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 1 |
| RS398122850 | Health Risk | Pathogenic | VACTERL association, X-linked, with or without hydrocephalus |
| RS886042663 | Health Risk | Pathogenic | — |
| RS2124185586 | Health Risk | Pathogenic/Likely pathogenic | Heterotaxy, visceral, 1 |