BEST1

bestrophin 1

Summary

This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008]

Known Variants641 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs142254162	11:61,716,155	G/T	upstream gene variant	—
rs137965157	11:61,717,400	T/C	—	likely benign
rs77151527	11:61,717,508	C/T	—	likely benign
rs117165769	11:61,717,563	T/A	—	likely benign
rs972354	11:61,717,607	C/T	—	benign
rs972353	11:61,717,715	T/C	—	benign
rs886048424	11:61,717,811	G/A	—	uncertain significance
rs562849665	11:61,717,815	C/T	—	uncertain significance
rs886048425	11:61,717,870	G/T	—	uncertain significance
rs1555096248	11:61,717,900	G/T	—	likely pathogenic
rs1299071387	11:61,717,904	G/A	—	likely pathogenic
rs2736597	11:61,718,036	G/A	—	benign
rs77651946	11:61,718,173	G/A	—	likely benign
rs73493205	11:61,718,228	T/C	—	likely benign
rs2736596	11:61,719,026	G/A	—	benign
rs11825719	11:61,719,070	T/C	—	benign
rs2541331724	11:61,719,279	A/G	—	pathogenic
rs1209208472	11:61,719,283	C/G	—	pathogenic
rs907161461	11:61,719,286	T/A	—	pathogenic
rs368383940	11:61,719,289	C/T	—	pathogenic
rs2541331793	11:61,719,291	T/A	—	uncertain significance
rs28940275	11:61,719,294	A/C	—	pathogenic
rs281865204	11:61,719,295	C/G	—	pathogenic
rs199508634	11:61,719,298	G/A	—	uncertain significance
rs28940276	11:61,719,303	G/A	—	pathogenic
rs281865205	11:61,719,304	T/C	—	pathogenic
rs281865206	11:61,719,306	G/A	—	pathogenic
rs281865207	11:61,719,307	C/T	—	pathogenic
rs281865208	11:61,719,310	A/G	—	likely pathogenic
rs281865531	11:61,719,311	T/G	—	likely pathogenic
rs1940692591	11:61,719,313	C/G	—	uncertain significance
rs886041141	11:61,719,315	C/T	—	pathogenic
rs281865209	11:61,719,316	G/C	—	pathogenic
rs1940694228	11:61,719,317	C/T	—	likely benign
rs2541332010	11:61,719,319	T/C	—	uncertain significance
rs766379510	11:61,719,322	G/A	—	pathogenic
rs2541332053	11:61,719,324	T/C	—	likely pathogenic
rs281865210	11:61,719,325	C/T	—	pathogenic
rs1940696088	11:61,719,327	T/A	—	likely pathogenic
rs281865211	11:61,719,328	T/A	—	likely pathogenic
rs1940696725	11:61,719,329	C/A	—	uncertain significance
rs765385264	11:61,719,333	C/T	—	conflicting classifications of pathogenicity
rs752923595	11:61,719,334	G/A	—	conflicting classifications of pathogenicity
rs1591266379	11:61,719,336	C/G	—	pathogenic
rs2541332164	11:61,719,337	T/C	—	likely pathogenic
rs2134409489	11:61,719,338	G/A	—	likely benign
rs281865212	11:61,719,339	C/G	—	pathogenic
rs758726044	11:61,719,340	T/G	—	pathogenic
rs2134409545	11:61,719,344	G/A	—	likely benign
rs1465486114	11:61,719,347	C/T	—	likely benign
rs1334381137	11:61,719,348	T/C	—	likely pathogenic
rs281865213	11:61,719,350	G/T	—	pathogenic
rs281865214	11:61,719,351	C/T	—	pathogenic
rs281865215	11:61,719,352	G/A	—	pathogenic
rs2134409637	11:61,719,354	G/A	—	likely pathogenic
rs748684128	11:61,719,355	G/A	—	conflicting classifications of pathogenicity
rs768284216	11:61,719,356	C/T	—	likely benign
rs2134409684	11:61,719,357	A/G	—	pathogenic
rs1301396112	11:61,719,358	G/A	—	likely pathogenic
rs281865216	11:61,719,359	C/G	—	pathogenic
rs2541332389	11:61,719,362	C/T	—	likely benign
rs281865217	11:61,719,363	T/C	—	pathogenic
rs1565382549	11:61,719,364	A/G	—	likely pathogenic
rs121918285	11:61,719,365	C/G	—	pathogenic
rs281865218	11:61,719,367	A/G	—	pathogenic
rs2541332491	11:61,719,370	T/G	—	likely pathogenic
rs1011302811	11:61,719,371	G/A	—	likely benign
rs1591266591	11:61,719,373	T/C	—	pathogenic
rs994248373	11:61,719,375	T/C	—	conflicting classifications of pathogenicity
rs373950010	11:61,719,377	T/C	—	likely benign
rs771898125	11:61,719,380	C/T	intron variant	pathogenic
rs886041142	11:61,719,381	G/A	—	pathogenic
rs2134409890	11:61,719,383	G/C	—	uncertain significance
rs1800007	11:61,719,387	C/T	—	benign
rs1064796849	11:61,719,391	T/G	—	conflicting classifications of pathogenicity
rs1465926336	11:61,719,395	C/T	—	likely benign
rs121918288	11:61,719,400	T/C	intron variant	pathogenic
rs201476918	11:61,719,410	C/T	—	likely benign
rs1940711760	11:61,719,411	A/G	—	uncertain significance
rs2134410137	11:61,719,413	C/T	—	likely benign
rs989919477	11:61,719,415	T/C	—	uncertain significance
rs765333778	11:61,719,417	C/T	—	pathogenic
rs28940278	11:61,719,418	G/A	intron variant	pathogenic
rs2134410214	11:61,719,419	C/A	—	likely benign
rs1406033170	11:61,719,424	T/C	—	uncertain significance
rs763141918	11:61,719,428	T/C	—	likely benign
rs914504094	11:61,719,430	G/A	—	uncertain significance
rs764420497	11:61,719,436	G/T	—	conflicting classifications of pathogenicity
rs1305920977	11:61,719,437	C/T	—	likely benign
rs1488178170	11:61,719,445	G/A	—	likely benign
rs2668899	11:61,721,639	A/G	regulatory region variant	—
rs77543508	11:61,722,444	G/C	—	likely benign
rs112665957	11:61,722,504	C/T	—	likely benign
rs568192399	11:61,722,561	C/A	—	likely benign
rs775520760	11:61,722,565	A/C	—	benign
rs2541353096	11:61,722,566	C/A	—	likely benign
rs763090309	11:61,722,570	C/G	—	likely benign
rs2541353299	11:61,722,576	C/T	—	uncertain significance
rs751807541	11:61,722,579	G/A	—	uncertain significance
rs375873874	11:61,722,585	C/A	—	likely benign

Showing 100 of 641 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.