CRYZL2P-SEC16B

Chr 1

CRYZL2P-SEC16B readthrough

This locus represents naturally occurring read-through transcription between the neighboring CRYZL2P (crystallin zeta like 2 pseudogene) and SEC16B (SEC16 homolog B, endoplasmic reticulum export factor) genes on chromosome 1. The readthrough transcript encodes a protein that shares sequence identity with the downstream gene product. [provided by RefSeq, Oct 2017]

ResearchGenerating clinical summary…
Clinical SummaryCRYZL2P-SEC16B
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ClinVar Variants
163 VUS of 216 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

216 submitted variants in ClinVar

Classification Summary

VUS163
Likely Benign21
Benign5
Conflicting1
163
VUS
21
Likely Benign
5
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
163
0
0
163
Likely Benign
0
19
0
2
21
Benign
0
5
0
0
5
Conflicting
1
Total018702190

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

9 pathogenic / likely-pathogenic (of 9) ClinVar copy-number / structural variants overlap CRYZL2P-SEC16B — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

CRYZL2P-SEC16B · 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 →