FRAS1

Fraser extracellular matrix complex subunit 1

Summary

This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

Known Variants2,328 total

rsidPosition (GRCh37)AllelesClassClinVar
rs8860596224:78,978,742C/G—uncertain significance
rs783631854:78,978,907G/T—benign
rs8860596234:78,978,919C/G—uncertain significance
rs5665844574:78,978,931A/T—uncertain significance
rs8860596244:78,978,976C/T—uncertain significance
rs5592065284:78,978,979G/T—uncertain significance
rs68322854:78,979,099T/C—benign
rs342374184:78,979,141C/T—benign
rs7506624624:78,979,146G/T—uncertain significance
rs12821468924:78,979,176A/T—pathogenic
rs14110236974:78,979,177A/T—uncertain significance
rs12905797564:78,979,179G/A—uncertain significance
rs24759808434:78,979,181G/A—likely benign
rs13274429314:78,979,187C/T—likely benign
rs17395545734:78,979,190G/A—likely benign
rs17395547024:78,979,192T/C—uncertain significance
rs14494689104:78,979,193G/A—likely benign
rs7734578374:78,979,202G/A—conflicting classifications of pathogenicity
rs14107643004:78,979,208G/T—likely benign
rs5549955054:78,979,210A/C—uncertain significance
rs7947269524:78,979,234C/A—uncertain significance
rs7591549404:78,979,235C/T—likely benign
rs17395586354:78,979,240G/A—likely pathogenic
rs8860596254:78,979,244G/A—uncertain significance
rs14164165114:78,979,249C/A—likely benign
rs7629952984:78,979,255C/A—likely benign
rs10366187464:78,979,257C/T—likely benign
rs7640249634:78,979,258G/T—likely benign
rs7513417194:78,979,259T/C—likely benign
rs17400160234:78,987,129T/G—likely benign
rs17400161344:78,987,130T/C—uncertain significance
rs3758582434:78,987,151A/G—uncertain significance
rs48599054:78,987,157A/G—benign
rs14530450284:78,987,165T/C—likely benign
rs7584792354:78,987,170G/A—uncertain significance
rs7781790294:78,987,177C/T—likely benign
rs768310114:78,987,180T/G—conflicting classifications of pathogenicity
rs14166086724:78,987,183T/A—likely benign
rs5339585484:78,987,187A/C—likely benign
rs13932359384:78,987,188T/C—likely benign
rs100084894:78,989,716T/C—benign
rs170029884:79,079,757C/Tintron variant—
rs13200884:79,131,741G/Aintron variant—
rs24764866374:79,158,644G/C—likely benign
rs10532352194:79,158,656C/G—likely benign
rs21101148754:79,158,664G/A—uncertain significance
rs24764867144:79,158,666T/A—uncertain significance
rs3691320574:79,158,669C/T—likely benign
rs7515336444:79,158,673A/C—uncertain significance
rs13510585434:79,158,681G/A—likely benign
rs7817497004:79,158,684C/T—likely benign
rs5686765504:79,158,685G/A—uncertain significance
rs2003734254:79,158,704G/A—likely benign
rs24764868444:79,158,708C/T—likely benign
rs24764868494:79,158,709C/T—uncertain significance
rs170030714:79,158,715G/C—benign
rs24764869064:79,158,723T/G—likely benign
rs7757437304:79,158,746G/A—likely benign
rs13955895794:79,158,747A/G—likely benign
rs2004294764:79,158,750C/T—conflicting classifications of pathogenicity
rs1178764334:79,158,756A/G—likely benign
rs7681881464:79,158,765T/C—likely benign
rs24764870964:79,158,784A/G—likely benign
rs10256907014:79,158,786T/C—likely benign
rs24764990204:79,166,369C/T—likely benign
rs1504985674:79,166,384C/T—uncertain significance
rs1997451974:79,166,397T/G—uncertain significance
rs3683988404:79,166,401A/G—likely benign
rs3703459164:79,166,407T/C—conflicting classifications of pathogenicity
rs24764991614:79,166,413C/T—likely benign
rs11666386934:79,166,416A/G—likely benign
rs3713876394:79,166,440G/A—likely benign
rs17251822554:79,166,455C/A—pathogenic
rs24764993854:79,166,470A/G—likely benign
rs787117484:79,166,478A/T—benign
rs24764994614:79,166,480G/A—likely pathogenic
rs24764995444:79,166,487T/C—likely benign
rs7809417714:79,166,488T/C—likely benign
rs14771427034:79,166,490T/C—likely benign
rs24764995634:79,166,492T/C—likely benign
rs24764995684:79,166,494A/T—likely benign
rs1394639604:79,166,499C/T—likely benign
rs12055843794:79,173,529G/A—likely benign
rs24765133624:79,173,530T/C—likely benign
rs7580480394:79,173,532T/G—likely benign
rs14261516104:79,173,534C/T—likely benign
rs7636949394:79,173,535C/T—likely benign
rs3735217484:79,173,540A/T—likely benign
rs7812291994:79,173,541C/T—conflicting classifications of pathogenicity
rs13530557404:79,173,545G/A—likely pathogenic
rs7457882894:79,173,547A/G—uncertain significance
rs13679046784:79,173,561G/A—uncertain significance
rs13006929344:79,173,569T/A—likely benign
rs1995934484:79,173,573T/C—uncertain significance
rs5451011834:79,173,578T/C—likely benign
rs24765135154:79,173,584C/T—likely benign
rs24765135714:79,173,599G/T—likely benign
rs3770466304:79,173,606C/Tstop gainedpathogenic
rs2007645084:79,173,607G/A—uncertain significance
rs10065407084:79,173,614C/T—likely benign

Showing 100 of 2,328 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.