Trait
Freckling
The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
Summary
- Body system
- Abnormality of the integument
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test44 genes linked to Freckling
Changes in these genes cause rare conditions in which Freckling is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Always | In 2 conditions |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Always | In 1 condition |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Always | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Very often (80–99%) | In 1 condition |
| DDB2damage specific DNA binding protein 2 | Very often (80–99%) | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Very often (80–99%) | In 2 conditions |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Very often (80–99%) | In 2 conditions |
| ERCC5ERCC excision repair 5, endonuclease | Very often (80–99%) | In 1 condition |
| NF1neurofibromin 1 | Very often (80–99%) | In 2 conditions |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Very often (80–99%) | In 1 condition |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Very often (80–99%) | In 1 condition |
| TP63tumor protein p63 | Very often (80–99%) | In 3 conditions |
| TYRtyrosinase | Very often (80–99%) | In 2 conditions |
| XPAXPA, DNA damage recognition and repair factor | Very often (80–99%) | In 1 condition |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Very often (80–99%) | In 2 conditions |
| ABCB6ATP binding cassette subfamily B member 6 (LAN blood group) | Often (30–79%) | In 1 condition |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Often (30–79%) | In 1 condition |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Often (30–79%) | In 1 condition |
| BAP1BRCA1 associated deubiquitinase 1 | Often (30–79%) | In 1 condition |
| CDK4cyclin dependent kinase 4 | Often (30–79%) | In 1 condition |
| CDKN2Acyclin dependent kinase inhibitor 2A | Often (30–79%) | In 1 condition |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Often (30–79%) | In 1 condition |
| GPR143G protein-coupled receptor 143 | Often (30–79%) | In 1 condition |
| KAT6Alysine acetyltransferase 6A | Often (30–79%) | In 1 condition |
| MC1Rmelanocortin 1 receptor | Often (30–79%) | In 2 conditions |
| MGMTO-6-methylguanine-DNA methyltransferase | Often (30–79%) | In 1 condition |
| MITFmelanocyte inducing transcription factor | Often (30–79%) | In 1 condition |
| OCA2OCA2 melanosomal transmembrane protein | Often (30–79%) | In 1 condition |
| PORCNporcupine O-acyltransferase | Often (30–79%) | In 1 condition |
| POT1protection of telomeres 1 | Often (30–79%) | In 1 condition |
| SASH1SAM and SH3 domain containing 1 | Often (30–79%) | In 1 condition |
| SPRED1sprouty related EVH1 domain containing 1 | Often (30–79%) | In 1 condition |
| TERF2IPTERF2 interacting protein | Often (30–79%) | In 1 condition |
| TERTtelomerase reverse transcriptase | Often (30–79%) | In 1 condition |
| TYRP1tyrosinase related protein 1 | Often (30–79%) | In 1 condition |
| CDH3cadherin 3 | Sometimes (5–29%) | In 1 condition |
| LEF1lymphoid enhancer binding factor 1 | Sometimes (5–29%) | In 1 condition |
| LZTR1leucine zipper like post translational regulator 1 | Sometimes (5–29%) | In 1 condition |
| NBNnibrin | Sometimes (5–29%) | In 1 condition |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Sometimes (5–29%) | In 1 condition |
Show 4 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Not recorded | In 1 condition |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Not recorded | In 1 condition |
| SOX18SRY-box transcription factor 18 | Not recorded | In 1 condition |
| UVSSAUV stimulated scaffold protein A | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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