CDY1

Chr Y

chromodomain Y-linked 1

Also known as: CDY, CDY1A

CDY1 encodes a histone acetyltransferase with chromodomain that functions specifically in late spermatids to acetylate histone H4, facilitating the replacement of histones with protamines during sperm maturation. This gene is located on the Y chromosome and mutations would follow Y-linked inheritance, passing from father to son. CDY1 mutations are associated with male infertility rather than neurological disease.

OMIMResearchSummary from RefSeq, UniProt
Clinical SummaryCDY1
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ClinVar Variants
78 unique Pathogenic / Likely Pathogenic· 16 VUS of 101 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

101 submitted variants in ClinVar

Classification Summary

Pathogenic75
Likely Pathogenic3
VUS16
Likely Benign6
Benign1
75
Pathogenic
3
Likely Pathogenic
16
VUS
6
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
75
Likely Pathogenic
3
VUS
16
Likely Benign
6
Benign
1
Total101

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CDY1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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