PRDM5 Chromosome 4

PR/SET domain 5
77 variants 77 Health Risk

Upload your DNA to see your personal genotypes for variants in PRDM5.

What This Gene Does
The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Zinc fingers C2H2-type|PR/SET domain family|Putative lysine methyltransferases"
Locus Type
gene with protein product
Location
4q27
Ensembl
ENSG00000138738
Associated Conditions (5)
Brittle cornea syndrome 2
PRDM5-related disorder
Cardiovascular phenotype
Ehlers-Danlos syndrome
Connective tissue disorder
Key Variants
RS1064794819
Conflicting classifications of pathogenicity
Brittle cornea syndrome 2, PRDM5-related disorder, Cardiovascular phenotype
Health Risk
RS1306216582
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1343793848
Conflicting classifications of pathogenicity
Health Risk
RS1405110509
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
Health Risk
RS140554156
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS144553125
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS148079992
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
Health Risk
RS150476884
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1744464153
Conflicting classifications of pathogenicity
Brittle cornea syndrome 2, Brittle cornea syndrome 2
Health Risk
RS183142477
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, Cardiovascular phenotype, Brittle cornea syndrome 2
Health Risk
RS185134294
Conflicting classifications of pathogenicity
Brittle cornea syndrome 2, Ehlers-Danlos syndrome, Cardiovascular phenotype
Health Risk
RS187637689
Conflicting classifications of pathogenicity
Brittle cornea syndrome 2, Cardiovascular phenotype, Brittle cornea syndrome 2
Health Risk
All Variants (77)
RSID Category Clinical Significance Conditions
RS1064794819 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 2, PRDM5-related disorder, Cardiovascular phenotype
RS1306216582 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1343793848 Health Risk Conflicting classifications of pathogenicity —
RS1405110509 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS140554156 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS144553125 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS148079992 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS150476884 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1744464153 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS183142477 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Brittle cornea syndrome 2
RS185134294 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 2, Ehlers-Danlos syndrome, Cardiovascular phenotype
RS187637689 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 2, Cardiovascular phenotype, Brittle cornea syndrome 2
RS190061397 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS199602365 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Cardiovascular phenotype, PRDM5-related disorder
RS201325904 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201474353 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS201945549 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brittle cornea syndrome 2, Cardiovascular phenotype
RS201965676 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS374583073 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 2, Ehlers-Danlos syndrome, Brittle cornea syndrome 2
RS375296023 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS531143989 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS533311848 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS563401372 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS745891819 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS746068577 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS748667559 Health Risk Conflicting classifications of pathogenicity —
RS749616603 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS751182540 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 2, PRDM5-related disorder, Brittle cornea syndrome 2
RS753768741 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, PRDM5-related disorder, Ehlers-Danlos syndrome
RS755929725 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS759782529 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS761027478 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 2, Cardiovascular phenotype, Brittle cornea syndrome 2
RS764095834 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS766857802 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS767571327 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS773523380 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS777432357 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype, Ehlers-Danlos syndrome
RS777981327 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS886059042 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS1057517804 Health Risk Likely pathogenic —
RS1267028551 Health Risk Likely pathogenic —
RS1272853346 Health Risk Likely pathogenic —
RS1725107158 Health Risk Likely pathogenic Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS1734373037 Health Risk Likely pathogenic Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS1734381962 Health Risk Likely pathogenic Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS2477147529 Health Risk Likely pathogenic —
RS2477240695 Health Risk Likely pathogenic —
RS2477938090 Health Risk Likely pathogenic Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS2477943667 Health Risk Likely pathogenic —
RS2477956523 Health Risk Likely pathogenic Brittle cornea syndrome 2, Brittle cornea syndrome 2
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