COL5A3

collagen type V alpha 3 chain

Summary

This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]

Known Variants128 total

rsidPosition (GRCh37)AllelesClassClinVar
rs19993919219:10,071,184G/A—likely benign
rs159952052819:10,071,215T/G—uncertain significance
rs20201686419:10,071,217G/A—uncertain significance
rs77983638319:10,071,362C/T—uncertain significance
rs77094883519:10,071,367G/T—uncertain significance
rs102910080719:10,071,409C/T—uncertain significance
rs251347036419:10,071,516G/C—uncertain significance
rs14263154119:10,071,548C/T—uncertain significance
rs20058468519:10,071,551C/T—uncertain significance
rs74759641619:10,073,563C/G—uncertain significance
rs13973696019:10,077,053C/T—likely benign
rs208674505219:10,077,054C/T—uncertain significance
rs86859365519:10,077,224G/A—uncertain significance
rs251347915119:10,077,248G/A—uncertain significance
rs103446175819:10,077,367G/C—uncertain significance
rs77593521519:10,078,061G/C—uncertain significance
rs57194580919:10,078,581G/A—uncertain significance
rs37614824119:10,078,738A/C—uncertain significance
rs77507781419:10,078,740T/C—uncertain significance
rs54866130919:10,079,062G/A—uncertain significance
rs37089601019:10,079,084G/A—uncertain significance
rs13988725719:10,079,143A/G—uncertain significance
rs208678583819:10,079,150C/T—uncertain significance
rs77702714619:10,079,353T/G—uncertain significance
rs14542100819:10,079,386C/T—uncertain significance
rs37193987619:10,080,292G/A—uncertain significance
rs251348781819:10,080,298G/A—uncertain significance
rs37031473719:10,081,652G/A—uncertain significance
rs251349383719:10,081,667C/G—uncertain significance
rs76694954019:10,081,668C/T—uncertain significance
rs123667496219:10,081,916C/T—uncertain significance
rs14238252219:10,081,919G/A—uncertain significance
rs251350019819:10,084,439C/A—uncertain significance
rs6263875019:10,084,460A/G—benign
rs36873220519:10,084,624G/A—uncertain significance
rs76342923219:10,084,848A/G—uncertain significance
rs57383277319:10,084,858C/T—uncertain significance
rs75718095919:10,084,867C/T—uncertain significance
rs102548349519:10,085,035T/C—uncertain significance
rs37205517619:10,085,060G/A—uncertain significance
rs77048333219:10,087,278C/T—uncertain significance
rs11762495319:10,087,734C/Tintron variant—
rs20004165719:10,087,906G/A—likely benign
rs76328498619:10,087,907C/T—uncertain significance
rs75444558019:10,088,044G/C—uncertain significance
rs14819498819:10,088,055C/T—uncertain significance
rs251350934719:10,088,113A/C—uncertain significance
rs11567642119:10,088,127G/A—benign
rs75376697919:10,088,272G/A—uncertain significance
rs75022184719:10,088,365C/T—uncertain significance
rs131349404919:10,089,257C/T—uncertain significance
rs76948580719:10,089,568G/A—uncertain significance
rs251351279219:10,089,601C/T—uncertain significance
rs75593236119:10,090,062G/A—uncertain significance
rs19988049719:10,090,070C/T—likely benign
rs125764674919:10,090,516A/G—uncertain significance
rs208698171119:10,090,541C/T—uncertain significance
rs37647508119:10,090,549C/G—uncertain significance
rs14244951919:10,090,675G/C—uncertain significance
rs142037393419:10,090,677C/G—uncertain significance
rs74625191019:10,091,353C/G—uncertain significance
rs15130733419:10,091,363A/G—benign
rs14544354519:10,091,529G/A—uncertain significance
rs77581806419:10,092,767C/G—uncertain significance
rs76435551119:10,092,776C/T—uncertain significance
rs208709183619:10,096,523G/C—uncertain significance
rs74537493219:10,097,039C/A—uncertain significance
rs20101217819:10,097,071C/T—uncertain significance
rs20221543519:10,097,086C/T—uncertain significance
rs20152223619:10,097,261A/G—uncertain significance
rs15064486219:10,097,279C/T—uncertain significance
rs77864663919:10,097,419G/A—uncertain significance
rs77798064619:10,099,810C/A—uncertain significance
rs14936310619:10,099,828G/A—uncertain significance
rs86430960519:10,100,029T/C—uncertain significance
rs75847470719:10,100,173G/A—uncertain significance
rs76063061619:10,102,517C/A—uncertain significance
rs148095125119:10,102,700G/A—uncertain significance
rs251354132519:10,102,723C/A—uncertain significance
rs37571913419:10,103,507C/T—uncertain significance
rs75528409619:10,103,525G/A—uncertain significance
rs14222332219:10,103,532T/C—uncertain significance
rs14781482419:10,103,700G/A—uncertain significance
rs208721675019:10,103,710C/T—uncertain significance
rs14616447319:10,106,260G/A—uncertain significance
rs251354808519:10,106,289G/A—uncertain significance
rs14941612119:10,106,787G/A—likely benign
rs37643160919:10,106,888G/A—likely benign
rs14448938419:10,106,895C/T—uncertain significance
rs14841785919:10,106,896G/A—uncertain significance
rs57818513719:10,106,910A/C—uncertain significance
rs54451641119:10,107,182G/A—uncertain significance
rs77682044419:10,107,313G/A—uncertain significance
rs37767978219:10,107,344T/A—uncertain significance
rs124752266219:10,107,358G/T—uncertain significance
rs20147578219:10,108,048G/A—uncertain significance
rs251355270119:10,108,054C/A—uncertain significance
rs14028694019:10,108,061C/T—uncertain significance
rs251355282819:10,108,090C/A—uncertain significance
rs126880247519:10,108,097G/T—uncertain significance

Showing 100 of 128 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.