CTNND1 Chromosome 11
Catenin delta 1
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What This Gene Does
This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and alternative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. Read-through transcription also exists between this gene and the neighboring upstream thioredoxin-related transmembrane protein 2 (TMX2) gene. [provided by RefSeq, Dec 2010]
Gene Info
Gene Group
"Armadillo repeat containing|p120 catenin family"
Locus Type
gene with protein product
Location
11q12.1
Ensembl
ENSG00000198561
Associated Conditions (4)
Inborn genetic diseases
Blepharocheilodontic syndrome 2
Cleft lip with or without cleft palate
CTNND1-related disorder
Key Variants
RS1291422553
Conflicting classifications of pathogenicity
Health Risk
RS200568477
Conflicting classifications of pathogenicity
Inborn genetic diseases, Blepharocheilodontic syndrome 2, Inborn genetic diseases
Health Risk
RS200943999
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1314067686
Likely pathogenic
Cleft lip with or without cleft palate, Cleft lip with or without cleft palate
Health Risk
RS1591672193
Likely pathogenic
Blepharocheilodontic syndrome 2, Cleft lip with or without cleft palate, Blepharocheilodontic syndrome 2
Health Risk
RS2062048292
Likely pathogenic
Cleft lip with or without cleft palate, Blepharocheilodontic syndrome 2, Cleft lip with or without cleft palate
Health Risk
RS2062434410
Likely pathogenic
Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2
Health Risk
RS2062949363
Likely pathogenic
Cleft lip with or without cleft palate, Cleft lip with or without cleft palate
Health Risk
RS2137123732
Likely pathogenic
Health Risk
RS2137392998
Likely pathogenic
Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2
Health Risk
RS2497138959
Likely pathogenic
Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2
Health Risk
RS2497334592
Likely pathogenic
CTNND1-related disorder, CTNND1-related disorder
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1291422553 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200568477 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Blepharocheilodontic syndrome 2, Inborn genetic diseases |
| RS200943999 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1314067686 | Health Risk | Likely pathogenic | Cleft lip with or without cleft palate, Cleft lip with or without cleft palate |
| RS1591672193 | Health Risk | Likely pathogenic | Blepharocheilodontic syndrome 2, Cleft lip with or without cleft palate, Blepharocheilodontic syndrome 2 |
| RS2062048292 | Health Risk | Likely pathogenic | Cleft lip with or without cleft palate, Blepharocheilodontic syndrome 2, Cleft lip with or without cleft palate |
| RS2062434410 | Health Risk | Likely pathogenic | Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2 |
| RS2062949363 | Health Risk | Likely pathogenic | Cleft lip with or without cleft palate, Cleft lip with or without cleft palate |
| RS2137123732 | Health Risk | Likely pathogenic | — |
| RS2137392998 | Health Risk | Likely pathogenic | Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2 |
| RS2497138959 | Health Risk | Likely pathogenic | Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2 |
| RS2497334592 | Health Risk | Likely pathogenic | CTNND1-related disorder, CTNND1-related disorder |
| RS1277132301 | Health Risk | Pathogenic | Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2 |
| RS1555053981 | Health Risk | Pathogenic | Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2 |
| RS1555057567 | Health Risk | Pathogenic | — |
| RS1555057581 | Health Risk | Pathogenic | Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2 |
| RS2061409627 | Health Risk | Pathogenic | Cleft lip with or without cleft palate, Cleft lip with or without cleft palate |
| RS2063072465 | Health Risk | Pathogenic | Cleft lip with or without cleft palate, Cleft lip with or without cleft palate |
| RS2137126246 | Health Risk | Pathogenic | Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2 |
| RS2137277484 | Health Risk | Pathogenic | Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2 |
| RS2137426627 | Health Risk | Pathogenic | — |
| RS2497140154 | Health Risk | Pathogenic | Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2 |
| RS2497403760 | Health Risk | Pathogenic | — |
| RS2497730659 | Health Risk | Pathogenic | Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2 |
| RS780642639 | Health Risk | Pathogenic | Cleft lip with or without cleft palate, Cleft lip with or without cleft palate |
| RS2062049610 | Health Risk | Pathogenic/Likely pathogenic | Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2 |