TMEM269-DT

Chr 1

TMEM269 divergent transcript

Also known as: C1orf50-AS1

6
ClinVar variants
6
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryTMEM269-DT
📋
ClinVar Variants
6 Pathogenic / Likely Pathogenic of 6 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

6 submitted variants in ClinVar

Classification Summary

Pathogenic4
Likely Pathogenic2
4
Pathogenic
2
Likely Pathogenic

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
4
Likely Pathogenic
2
VUS
0
Likely Benign
0
Benign
0
Total6

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TMEM269-DT · 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.