Gene

PERCC1

proline and glutamate rich with coiled coil 1

Cytogenetic location: 16p13.3
Coordinates: Chromosome 16: 1,431,078–1,434,441 (GRCh38)
Exons: 2 exons across 3.4 kb
Protein: 267 amino acids
MANE Select transcript: ENST00000640283.2NM_001365310.2
Locus type: Protein-coding

Very high
Confident
Low
Very low

This page as data

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page <- fromJSON(url)
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Curated reports relevant to this gene

No Genome Test report reads PERCC1 yet. The test sequences your whole genome, so your data includes it all the same.

Sequencing PERCC1

positions in PERCC1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 3.4 kb of PERCC1, introns included, not only the 1.9 kb of exons.

ClinVar pathogenic variants (3)

The PERCC1 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.

Pathogenic 1
Likely pathogenic 2

Variant	Conditions	ClinVar classification	Review status
NM_001365310.2(PERCC1):c.348C>G (p.Tyr116Ter) (opens in a new tab)	diarrhea 11, malabsorptive, congenital	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001365310.2(PERCC1):c.390C>G (p.Tyr130Ter) (opens in a new tab)	diarrhea 11, malabsorptive, congenital	Pathogenic	1 star out of 4 criteria provided, single submitter
NM_001365310.2(PERCC1):c.188C>G (p.Ser63Ter) (opens in a new tab)	diarrhea 11, malabsorptive, congenital	Likely pathogenic	1 star out of 4 criteria provided, single submitter

Traits linked to PERCC1

The Human Phenotype Ontology lists these as features of the rare conditions PERCC1 can cause. Each trait's page lists the other genes linked to it.

Abnormality of the digestive system

External links

Gene records

Transcript

Protein

Variants

Clinical

Where this comes from

HGNC: the gene's symbol, name, other symbols and location.
MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Data release 2026.10.18-8b139e39.

Cite this page

APA

Dante Labs. (n.d.). PERCC1 gene: proline and glutamate rich with coiled coil 1. Retrieved 19 October 2026, from https://dantelabs.com/genes/percc1

Vancouver

Dante Labs. PERCC1 gene: proline and glutamate rich with coiled coil 1 [Internet]. [cited 19 October 2026]. Available from: https://dantelabs.com/genes/percc1

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