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HGC6.3

Chr 6

uncharacterized LOC100128124

I cannot write a clinical gene summary for HGC6.3 because no information about this gene's protein function, associated diseases, or inheritance pattern has been provided in the data below the gene name. To create an accurate clinical summary following the specified guidelines, I would need details about what protein this gene encodes, what conditions result from mutations, and the inheritance pattern.

Clinical SummaryHGC6.3
📋
ClinVar Variants
25 unique Pathogenic / Likely Pathogenic· 1 VUS of 31 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/HGC6.3?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

31 submitted variants in ClinVar

Classification Summary

Pathogenic24
Likely Pathogenic1
VUS1
Likely Benign2
Benign3
24
Pathogenic
1
Likely Pathogenic
1
VUS
2
Likely Benign
3
Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
24
Likely Pathogenic
1
VUS
1
Likely Benign
2
Benign
3
Total31

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

HGC6.3 · 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.

Search ClinicalTrials.gov →