CCDC50

coiled-coil domain containing 50

Summary

This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

Known Variants208 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs112724649	3:191,046,730	T/C	—	likely benign
rs62617841	3:191,046,745	T/C	—	benign
rs4687210	3:191,046,770	G/A	—	benign
rs6779820	3:191,046,793	G/C	—	benign
rs115064906	3:191,046,877	A/G	—	benign
rs79488711	3:191,046,930	C/G	—	benign
rs368705093	3:191,047,007	G/A	—	likely benign
rs182001630	3:191,047,050	A/G	—	likely benign
rs186382346	3:191,047,081	G/A	—	likely benign
rs56141214	3:191,047,242	C/T	—	likely benign
rs377067940	3:191,047,401	C/G	—	likely benign
rs376222034	3:191,047,496	G/A	—	conflicting classifications of pathogenicity
rs981589224	3:191,047,508	G/A	—	likely benign
rs774098362	3:191,047,518	G/T	—	uncertain significance
rs9847278	3:191,047,532	G/A	—	benign
rs112686490	3:191,047,726	G/T	—	benign
rs117340948	3:191,047,731	T/G	—	benign
rs796791217	3:191,047,735	G/C	—	benign
rs530173086	3:191,047,740	G/C	—	benign
rs115986233	3:191,047,743	G/T	—	benign
rs112961570	3:191,047,760	A/G	—	benign
rs980321	3:191,048,554	T/G	regulatory region variant	—
rs188384	3:191,074,873	C/G	—	benign
rs2474028664	3:191,074,910	C/T	—	uncertain significance
rs759254309	3:191,074,911	C/T	—	likely benign
rs771813708	3:191,074,917	T/C	—	likely benign
rs116785872	3:191,075,006	C/T	—	likely benign
rs1520203	3:191,075,012	T/G	—	benign
rs28627146	3:191,075,649	A/G	—	benign
rs13434281	3:191,075,656	G/A	—	benign
rs140717780	3:191,075,751	C/T	—	likely benign
rs145892736	3:191,075,783	C/G	—	likely benign
rs2108648959	3:191,075,801	G/A	—	uncertain significance
rs1712350138	3:191,075,808	A/G	—	uncertain significance
rs762006742	3:191,075,810	G/A	—	likely benign
rs201015131	3:191,075,827	G/A	—	likely benign
rs1315088319	3:191,075,842	C/G	—	likely benign
rs1260207759	3:191,075,845	G/C	—	uncertain significance
rs1576958624	3:191,075,868	A/G	—	uncertain significance
rs1459433782	3:191,075,873	C/G	—	uncertain significance
rs370296131	3:191,075,881	G/A	—	likely benign
rs2108649071	3:191,075,892	T/C	—	uncertain significance
rs575240044	3:191,075,900	C/T	—	uncertain significance
rs138443787	3:191,075,901	G/A	—	conflicting classifications of pathogenicity
rs11542549	3:191,075,902	C/T	—	benign
rs374361271	3:191,075,929	G/A	—	likely benign
rs115052974	3:191,076,214	G/A	—	likely benign
rs76748166	3:191,078,573	A/G	—	likely benign
rs78232378	3:191,078,774	G/A	—	benign
rs772018999	3:191,078,841	T/C	—	likely benign
rs1298632395	3:191,078,854	T/A	—	likely benign
rs2108651367	3:191,078,872	G/T	—	uncertain significance
rs763498226	3:191,078,920	G/A	—	uncertain significance
rs2474034647	3:191,078,939	G/A	—	likely benign
rs293800	3:191,082,835	C/A	intron variant	—
rs437244	3:191,085,624	G/A	intron variant	—
rs13318724	3:191,087,400	G/C	—	benign
rs7618689	3:191,087,438	A/C	—	likely benign
rs4677631	3:191,087,439	C/A	—	benign
rs4677727	3:191,087,477	G/A	—	benign
rs4677632	3:191,087,546	A/G	—	benign
rs697905	3:191,087,551	A/G	—	benign
rs753554570	3:191,087,730	A/G	—	uncertain significance
rs35380043	3:191,087,740	A/T	—	benign
rs2474045888	3:191,087,749	G/C	—	uncertain significance
rs376944531	3:191,087,771	C/T	—	uncertain significance
rs749540956	3:191,087,789	C/T	—	uncertain significance
rs557807225	3:191,087,790	G/C	—	uncertain significance
rs2474045993	3:191,087,796	A/T	—	uncertain significance
rs1036708407	3:191,087,830	C/A	—	likely benign
rs73185226	3:191,087,994	T/C	—	benign
rs141816862	3:191,088,092	T/C	—	likely benign
rs145465944	3:191,088,093	G/A	—	likely benign
rs186063	3:191,092,256	T/C	intron variant	—
rs1713047216	3:191,092,861	G/T	—	uncertain significance
rs866014674	3:191,092,866	G/A	—	uncertain significance
rs1131691638	3:191,092,899	G/T	—	uncertain significance
rs1404575659	3:191,092,922	G/A	—	uncertain significance
rs201472875	3:191,092,948	G/C	—	uncertain significance
rs766000838	3:191,092,955	G/A	—	uncertain significance
rs2474053200	3:191,092,968	A/G	—	uncertain significance
rs755010827	3:191,092,976	G/C	—	uncertain significance
rs146653620	3:191,093,001	C/T	—	conflicting classifications of pathogenicity
rs138153104	3:191,093,019	C/T	—	conflicting classifications of pathogenicity
rs769257994	3:191,093,022	C/T	—	uncertain significance
rs115771997	3:191,093,028	C/T	—	benign
rs199687225	3:191,093,029	G/A	—	likely benign
rs1713056511	3:191,093,031	G/T	—	uncertain significance
rs375874806	3:191,093,045	A/G	—	uncertain significance
rs2028572	3:191,093,053	T/C	—	benign
rs566185695	3:191,093,068	G/T	—	uncertain significance
rs567369598	3:191,093,071	T/G	—	likely benign
rs2028573	3:191,093,080	A/G	—	benign
rs1032719052	3:191,093,081	C/T	—	uncertain significance
rs371781270	3:191,093,082	G/A	—	uncertain significance
rs747154818	3:191,093,099	C/G	—	likely benign
rs142679286	3:191,093,100	C/A	—	uncertain significance
rs773780456	3:191,093,120	A/G	—	uncertain significance
rs570376411	3:191,093,128	T/C	—	likely benign
rs1713066385	3:191,093,137	G/A	—	likely benign

Showing 100 of 208 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.