CTNNA1 Chromosome 5

Catenin alpha 1
306 variants 306 Health Risk

Upload your DNA to see your personal genotypes for variants in CTNNA1.

What This Gene Does
This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016]
Gene Info
Gene Group
Alpha catenins
Locus Type
gene with protein product
Location
5q31.2
Ensembl
ENSG00000044115
Associated Conditions (15)
Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
CTNNA1-related disorder
Patterned macular dystrophy 2
Retinal dystrophy
Hereditary nonpolyposis colon cancer
Hepatocellular carcinoma
Nonpapillary renal cell carcinoma
Polyposis syndrome
hereditary mixed
1
Colorectal cancer
Craniosynostosis syndrome
Hereditary breast ovarian cancer syndrome
CTNNA1-associated FEVR
Key Variants
RS1015730449
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1025792545
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
Health Risk
RS1181337385
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1213017578
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1215283244
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1248721633
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1253558458
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, CTNNA1-related disorder, Hereditary cancer-predisposing syndrome
Health Risk
RS1283433441
Conflicting classifications of pathogenicity
Patterned macular dystrophy 2, Patterned macular dystrophy 2
Health Risk
RS1292294409
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1294061925
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2, Hereditary cancer-predisposing syndrome
Health Risk
RS1346100329
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
Health Risk
RS1354521948
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2, Hereditary cancer-predisposing syndrome
Health Risk
All Variants (306)
RSID Category Clinical Significance Conditions
RS200279871 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Hepatocellular carcinoma
RS200549409 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Hereditary nonpolyposis colon cancer
RS201391408 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2, Hereditary diffuse gastric adenocarcinoma
RS201803579 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS201877485 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, CTNNA1-related disorder, Patterned macular dystrophy 2
RS2149651722 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2150023851 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2150140026 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2150289433 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2150335339 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2532178661 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2532179542 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer, Hereditary diffuse gastric adenocarcinoma
RS2532445696 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS2532445726 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2533731121 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2533861394 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS28363394 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, CTNNA1-related disorder, Hereditary diffuse gastric adenocarcinoma
RS369052669 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS371337206 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, CTNNA1-related disorder, Patterned macular dystrophy 2
RS371589105 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2, Hereditary cancer-predisposing syndrome
RS372515193 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS372815392 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS374313094 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Patterned macular dystrophy 2
RS374326029 Health Risk Conflicting classifications of pathogenicity —
RS374540412 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer, Hereditary diffuse gastric adenocarcinoma
RS374705823 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Hereditary nonpolyposis colon cancer
RS377182398 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS377477287 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, CTNNA1-related disorder, Patterned macular dystrophy 2
RS533573408 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS534196043 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS540697892 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS548392885 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS746153198 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2, Hereditary cancer-predisposing syndrome
RS746832628 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, CTNNA1-related disorder, Patterned macular dystrophy 2
RS746920603 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS747636658 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS747842444 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS748186935 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2, Hereditary cancer-predisposing syndrome
RS748930609 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2, Hereditary cancer-predisposing syndrome
RS749878552 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2, Hereditary diffuse gastric adenocarcinoma
RS749980248 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS750470900 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2, Hereditary cancer-predisposing syndrome
RS750796277 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS751942119 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS751967797 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2, Hereditary nonpolyposis colon cancer
RS752913534 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2, Retinal dystrophy
RS753897960 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS754174029 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2, Hereditary cancer-predisposing syndrome
RS754728195 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS755313774 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
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