C19ORF67

Chr 19

chromosome 19 open reading frame 67

C19ORF67 is predicted to function in embryonic development during gestation. Mutations cause an unspecified genetic disorder with autosomal recessive inheritance. The gene shows no significant constraint against loss-of-function variants based on population data.

Summary from RefSeq
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0
Active trials
0
Pubs (1 yr)
12
P/LP submissions
P/LP missense
0.96
LOEUF
Mechanism
Clinical SummaryC19ORF67
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
12 unique Pathogenic / Likely Pathogenic· 3 VUS of 17 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.96LOEUF
pLI 0.000
Z-score 1.69
OE 0.53 (0.310.96)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.75Z-score
OE missense 0.63 (0.540.74)
115 obs / 181.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.53 (0.310.96)
00.351.4
Missense OE0.63 (0.540.74)
00.61.4
Synonymous OE1.02
01.21.6
LoF obs/exp: 8 / 15.1Missense obs/exp: 115 / 181.4Syn Z: -0.14

ClinVar Variant Classifications

17 submitted variants in ClinVar

Classification Summary

Pathogenic11
Likely Pathogenic1
VUS3
11
Pathogenic
1
Likely Pathogenic
3
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
11
Likely Pathogenic
1
VUS
3
Likely Benign
0
Benign
0
Total15

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

C19ORF67 · 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.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found