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.

Summary from RefSeq, UniProt
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0
Active trials
0
Pubs (1 yr)
77
P/LP submissions
P/LP missense
LOEUF
Mechanism
Clinical SummaryCDY1
📋
ClinVar Variants
77 unique Pathogenic / Likely Pathogenic· 14 VUS of 98 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

98 submitted variants in ClinVar

Classification Summary

Pathogenic74
Likely Pathogenic3
VUS14
Likely Benign6
Benign1
74
Pathogenic
3
Likely Pathogenic
14
VUS
6
Likely Benign
1
Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
74
Likely Pathogenic
3
VUS
14
Likely Benign
6
Benign
1
Total98

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.

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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