C17ORF64

Chr 17

CHD1 helical C-terminal domain containing 1

Also known as: C17orf64

Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
4
Pathogenic / LP
4
ClinVar variants
1
Pubs (1 yr)
Missense Z
LOEUF
Clinical SummaryC17ORF64
📋
ClinVar Variants
4 Pathogenic / Likely Pathogenic of 4 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/C17ORF64?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

4 submitted variants in ClinVar

Classification Summary

Pathogenic2
Likely Pathogenic2
2
Pathogenic
2
Likely Pathogenic

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
Likely Pathogenic
2
VUS
0
Likely Benign
0
Benign
0
Total4

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

C17ORF64 · 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.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC