ZNF407 Chromosome 18
Zinc finger protein 407
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What This Gene Does
This gene encodes a zinc finger protein whose exact function is not known. It may be involved in transcriptional regulation. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
"Zinc fingers C2H2-type|Zinc fingers matrin-type"
Locus Type
gene with protein product
Location
18q23
Ensembl
ENSG00000215421
Associated Conditions (8)
ZNF407-related disorder
See cases
Neurodevelopmental delay
Short stature
impaired intellectual development
microcephaly
hypotonia
and ocular anomalies
Key Variants
RS116304324
Conflicting classifications of pathogenicity
Health Risk
RS149806516
Conflicting classifications of pathogenicity
Health Risk
RS183815209
Conflicting classifications of pathogenicity
Health Risk
RS201798922
Conflicting classifications of pathogenicity
Health Risk
RS34141917
Conflicting classifications of pathogenicity
ZNF407-related disorder, ZNF407-related disorder
Health Risk
RS368198591
Conflicting classifications of pathogenicity
Health Risk
RS375286661
Conflicting classifications of pathogenicity
Health Risk
RS541051452
Conflicting classifications of pathogenicity
Health Risk
RS74861823
Conflicting classifications of pathogenicity
Health Risk
RS760492866
Conflicting classifications of pathogenicity
ZNF407-related disorder, ZNF407-related disorder
Health Risk
RS762941748
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS77518676
Conflicting classifications of pathogenicity
ZNF407-related disorder, ZNF407-related disorder
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116304324 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149806516 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS183815209 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201798922 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS34141917 | Health Risk | Conflicting classifications of pathogenicity | ZNF407-related disorder, ZNF407-related disorder |
| RS368198591 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375286661 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS541051452 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS74861823 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760492866 | Health Risk | Conflicting classifications of pathogenicity | ZNF407-related disorder, ZNF407-related disorder |
| RS762941748 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS77518676 | Health Risk | Conflicting classifications of pathogenicity | ZNF407-related disorder, ZNF407-related disorder |
| RS797046127 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1568135082 | Health Risk | Pathogenic | Neurodevelopmental delay, Short stature, impaired intellectual development |
| RS571111328 | Health Risk | Pathogenic | Short stature, impaired intellectual development, microcephaly |