HAR1B

Chr 20

highly accelerated region 1B

Also known as: HAR1R, LINC00065, NCRNA00065

I don't have sufficient information about the HAR1B gene to write a clinical summary. The provided data does not include details about the protein function, associated diseases, inheritance pattern, or other clinical information necessary to create an accurate summary for a pediatric neurogenetics portal.

Clinical SummaryHAR1B
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ClinVar Variants
36 unique Pathogenic / Likely Pathogenic· 21 VUS of 61 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

61 submitted variants in ClinVar

Classification Summary

Pathogenic30
Likely Pathogenic6
VUS21
Likely Benign3
30
Pathogenic
6
Likely Pathogenic
21
VUS
3
Likely Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
30
Likely Pathogenic
6
VUS
21
Likely Benign
3
Benign
0
Total60

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

HAR1B · 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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