TCF19

Chr 6

transcription factor 19

Also known as: SC1, TCF-19

NCBI Gene: 6941ENSG00000137310UniProt: Q9Y242

This gene encodes a protein that contains a PHD-type zinc finger domain and likely functions as a transcription factor. The encoded protein plays a role proliferation and apoptosis of pancreatic beta cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.20
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.20LOEUF
pLI 0.001
Z-score 1.15
OE 0.61 (0.33–1.20)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.51Z-score
OE missense 0.70 (0.61–0.81)
146 obs / 207.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.61 (0.33–1.20)
0≤0.351.4
Missense OE?0.70 (0.61–0.81)
0≤0.61.4
Synonymous OE?0.83
0≤1.21.6
LoF obs/exp: 6 / 9.9Missense obs/exp: 146 / 207.2Syn Z: 1.25

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TCF19 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients