CTNND1

catenin delta 1

Summary

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]

Known Variants153 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs527623473	11:57,534,529	C/T	—	—
rs11229119	11:57,535,966	C/T	intron variant	—
rs17455626	11:57,544,484	T/C	intron variant	—
rs12274865	11:57,557,668	C/T	intron variant	—
rs890759549	11:57,558,957	G/T	—	uncertain significance
rs765794488	11:57,558,972	T/G	—	uncertain significance
rs766496020	11:57,558,978	G/C	—	uncertain significance
rs755258135	11:57,558,979	C/T	—	uncertain significance
rs376769498	11:57,558,992	C/T	—	likely benign
rs567875341	11:57,559,005	C/G	—	uncertain significance
rs1186189312	11:57,559,066	C/T	—	uncertain significance
rs2060756768	11:57,559,098	G/C	—	uncertain significance
rs145191455	11:57,559,105	A/G	—	likely benign
rs920179547	11:57,561,485	G/C	—	uncertain significance
rs1382872602	11:57,561,486	G/A	—	uncertain significance
rs201927451	11:57,561,488	C/T	—	uncertain significance
rs76817459	11:57,561,543	A/G	—	likely benign
rs11229130	11:57,562,169	A/G	downstream gene variant	—
rs759450868	11:57,563,089	A/G	—	uncertain significance
rs2497098250	11:57,563,094	C/T	—	uncertain significance
rs147401852	11:57,563,103	A/T	—	likely benign
rs1394252031	11:57,563,104	T/C	—	uncertain significance
rs375424851	11:57,563,112	A/G	—	uncertain significance
rs201815246	11:57,563,118	A/C	—	likely benign
rs974593994	11:57,563,143	T/C	—	uncertain significance
rs774901816	11:57,563,187	C/T	—	uncertain significance
rs867108561	11:57,563,188	G/A	—	uncertain significance
rs374433581	11:57,563,191	C/T	—	uncertain significance
rs200594061	11:57,563,200	C/T	—	uncertain significance
rs2497136638	11:57,563,929	G/A	—	uncertain significance
rs1256672182	11:57,563,962	A/G	—	uncertain significance
rs10896644	11:57,563,991	C/T	—	benign
rs547862516	11:57,563,992	G/A	—	uncertain significance
rs2497138959	11:57,564,014	C/G	—	likely pathogenic
rs770936827	11:57,564,019	T/G	—	uncertain significance
rs2497139767	11:57,564,050	A/G	—	uncertain significance
rs1406000983	11:57,564,056	G/C	—	uncertain significance
rs373643406	11:57,564,074	G/T	—	uncertain significance
rs116155541	11:57,564,106	G/T	—	uncertain significance
rs758501334	11:57,564,151	C/A	—	uncertain significance
rs755018338	11:57,564,162	A/T	—	uncertain significance
rs769538319	11:57,564,227	G/A	—	uncertain significance
rs11570195	11:57,564,246	A/G	—	benign
rs199994040	11:57,564,254	G/A	—	uncertain significance
rs754819160	11:57,564,257	C/T	—	uncertain significance
rs200914456	11:57,564,368	G/A	—	likely benign
rs1291422553	11:57,564,373	A/G	—	conflicting classifications of pathogenicity
rs2497146673	11:57,564,379	T/A	—	uncertain significance
rs748440586	11:57,564,424	C/G	—	uncertain significance
rs201576501	11:57,564,425	G/A	—	uncertain significance
rs200412123	11:57,564,450	T/A	—	likely benign
rs752588844	11:57,564,454	C/T	—	uncertain significance
rs11570196	11:57,564,596	T/G	—	benign
rs2137120536	11:57,569,194	A/G	—	uncertain significance
rs2497331994	11:57,569,206	A/G	—	uncertain significance
rs2062048292	11:57,569,255	G/A	—	likely pathogenic
rs2062049610	11:57,569,278	C/T	—	pathogenic
rs2137122092	11:57,569,281	G/A	—	uncertain significance
rs2497333830	11:57,569,302	A/G	—	uncertain significance
rs1203192441	11:57,569,327	C/T	—	uncertain significance
rs374531326	11:57,569,334	T/C	—	likely benign
rs1555057567	11:57,569,336	G/A	—	pathogenic
rs1555057581	11:57,569,341	C/T	—	pathogenic
rs61754545	11:57,569,353	C/T	—	uncertain significance
rs112713987	11:57,569,400	C/T	—	likely benign
rs757691006	11:57,569,402	A/G	—	uncertain significance
rs2137123732	11:57,569,428	T/C	—	likely pathogenic
rs533993840	11:57,569,434	C/G	—	uncertain significance
rs541781874	11:57,569,457	C/T	—	likely benign
rs762912441	11:57,569,517	A/T	—	uncertain significance
rs371034991	11:57,569,563	C/T	—	uncertain significance
rs775746543	11:57,569,618	T/C	—	uncertain significance
rs2137126246	11:57,569,629	C/T	—	pathogenic
rs11570199	11:57,569,638	C/T	—	benign
rs1175792150	11:57,569,666	C/A	—	uncertain significance
rs514691	11:57,569,828	A/T	—	benign
rs945863991	11:57,571,095	A/G	—	uncertain significance
rs2497403760	11:57,571,123	C/G	—	pathogenic
rs2497404593	11:57,571,159	C/G	—	uncertain significance
rs1314067686	11:57,571,168	A/G	—	likely pathogenic
rs2497405201	11:57,571,185	C/T	—	uncertain significance
rs199990235	11:57,571,209	A/G	—	likely benign
rs1178806559	11:57,571,272	C/G	—	uncertain significance
rs775782206	11:57,572,202	C/T	—	uncertain significance
rs2062434410	11:57,572,217	C/T	—	likely pathogenic
rs1038380278	11:57,572,227	T/C	—	uncertain significance
rs769120408	11:57,572,244	G/C	—	uncertain significance
rs2062435587	11:57,572,251	A/G	—	uncertain significance
rs780642639	11:57,573,381	C/T	—	pathogenic
rs1486500759	11:57,573,382	G/A	—	uncertain significance
rs747352352	11:57,573,405	C/T	—	uncertain significance
rs2497514762	11:57,573,429	T/A	—	uncertain significance
rs762325579	11:57,573,433	A/G	—	uncertain significance
rs1203876147	11:57,573,448	A/G	—	likely benign
rs377568553	11:57,573,468	C/T	—	uncertain significance
rs200943999	11:57,573,934	T/G	—	conflicting classifications of pathogenicity
rs2497548747	11:57,573,945	C/T	—	uncertain significance
rs372312508	11:57,573,947	A/G	—	uncertain significance
rs1357454914	11:57,574,395	C/T	—	uncertain significance
rs1159127086	11:57,574,418	T/A	—	uncertain significance

Showing 100 of 153 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.