CH17-408M7.1

Chr 1

uncharacterized LOC102724558

58
ClinVar variants
54
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryCH17-408M7.1
📋
ClinVar Variants
54 Pathogenic / Likely Pathogenic· 2 VUS of 58 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CH17-408M7.1?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

58 submitted variants in ClinVar

Classification Summary

Pathogenic48
Likely Pathogenic6
VUS2
Benign1
Conflicting1
48
Pathogenic
6
Likely Pathogenic
2
VUS
1
Benign
1
Conflicting

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
48
Likely Pathogenic
6
VUS
2
Likely Benign
0
Benign
1
Conflicting
1
Total58

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CH17-408M7.1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

No OMIM entries found.