CDH19

Chr 18

cadherin 19

Also known as: CDH7, CDH7L2

This gene is one of three related type II cadherin genes situated in a cluster on chromosome 18. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein containing five extracellular cadherin repeats. Loss of cadherins may be associated with cancer formation. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Aug 2012]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtVan Maldergem syndrome 1
UniProtMitral valve prolapse 2
0
Active trials
9
Pubs (1 yr)
P/LP submissions
P/LP missense
1.12
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.12LOEUF
pLI 0.000
Z-score 1.03
OE 0.80 (0.581.12)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.71Z-score
OE missense 1.10 (1.021.19)
450 obs / 409.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.80 (0.581.12)
00.351.4
Missense OE?1.10 (1.021.19)
00.61.4
Synonymous OE?1.16
01.21.6
LoF obs/exp: 25 / 31.2Missense obs/exp: 450 / 409.7Syn Z: -1.56

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CDH19 · 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 →