ZNF812P

Gene

zinc finger protein 812, pseudogene, the group of Zinc fingers C2H2-type

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

ZNF812

MANE transcript

N/A

Inheritance

—

ClinVar variants

—

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.69

Max pathogenic AF

—

Genomic locus

chr19:9,689,924-9,694,892

External References & Databases

Ensembl (ENSG00000224689)

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ZNF812P variants in ClinVar

0 Conditions Cataloged

No annotated ClinVar phenotypes.

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB
synonymous
missense
nonsense
start loss
frameshift
splice donor/acceptor (+/-2bp)
Total	0	0	0	0	0

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000457674
Coding exons: 4
Length: 10853
Individuals with no LoFs: 124918
Homozygous LoFs: 12
Heterozygous LoFs: 806
Defined: 125736
p: 0.00326

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-3.03	357	228	1.56	0.0000102	2984
Missense (PolyPhen)		132	92.409	1.4284		1292
Synonymous	-2.69	112	81.2	1.38	0.00000383	832
Loss of Function	-1.30	7	4.15	1.69	1.74e-7	57

Population LoF Frequency

Population	CAF	p-value	Status
African	0.044	0.044	notable
Latino/Admixed American	0.0020	0.0020	notable
Ashkenazi Jewish	0.00080	0.00079	rare
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.00018	0.00018	rare
South Asian	0.00020	0.00020	rare
Other	0.0021	0.0021	notable

dbNSFP Gene Annotations

Source: dbNSFP