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ZNF630

Synonyms
dJ54B20.2
External resources
Summary
This gene encodes a protein containing an N-terminal Kruppel-associated box-containing (KRAB) domain and 13 Kruppel-type C2H2 zinc finger domains. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked cognitive disability. Alternative splicing results in multiple transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
4,083
Likely benign
1,139
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ZNF630 gene.

Phenotype class
Patients in 3billion (%)

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