SPDYE16

Chr 7

speedy/RINGO cell cycle regulator family member E16

20
ClinVar variants
10
Pathogenic / LP
pLI score
0
Active trials
Clinical SummarySPDYE16
📋
ClinVar Variants
10 Pathogenic / Likely Pathogenic· 3 VUS of 20 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

20 submitted variants in ClinVar

Classification Summary

Pathogenic9
Likely Pathogenic1
VUS3
Likely Benign5
Benign2
9
Pathogenic
1
Likely Pathogenic
3
VUS
5
Likely Benign
2
Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
9
Likely Pathogenic
1
VUS
3
Likely Benign
5
Benign
2
Total20

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SPDYE16 · 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.