MLPH

melanophilin

Summary

This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

Known Variants165 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs67071074	2:238,395,429	T/C	regulatory region variant	—
rs58057291	2:238,395,479	T/A	regulatory region variant	—
rs80151891	2:238,398,826	G/T	regulatory region variant	—
rs12465081	2:238,401,784	A/G	—	benign
rs77869297	2:238,402,108	A/G	—	benign
rs140470472	2:238,402,139	C/T	—	conflicting classifications of pathogenicity
rs150059253	2:238,402,166	G/A	—	uncertain significance
rs119473031	2:238,402,172	C/T	missense variant	pathogenic
rs786205551	2:238,402,173	G/A	missense variant	pathogenic
rs201754288	2:238,402,190	C/T	—	likely benign
rs141873012	2:238,402,193	G/C	—	benign
rs10187185	2:238,416,524	C/G	intron variant	—
rs145091337	2:238,419,238	G/A	—	benign
rs2292878	2:238,419,286	C/T	—	benign
rs201095796	2:238,419,289	G/A	—	likely benign
rs80292002	2:238,419,321	A/G	—	benign
rs781560142	2:238,419,386	C/T	—	likely benign
rs986068171	2:238,419,387	G/A	—	uncertain significance
rs146551411	2:238,419,398	G/T	—	pathogenic
rs1559344834	2:238,419,401	G/A	—	uncertain significance
rs2106291953	2:238,419,439	G/T	—	likely pathogenic
rs2292879	2:238,419,611	A/G	—	benign
rs192641134	2:238,419,622	G/A	—	benign
rs200648474	2:238,419,635	C/T	—	likely benign
rs368834843	2:238,419,644	C/T	—	likely benign
rs1038312140	2:238,419,666	G/A	—	uncertain significance
rs143906191	2:238,419,671	T/C	—	benign
rs2292880	2:238,419,714	C/T	—	benign
rs1304579781	2:238,419,739	G/A	—	uncertain significance
rs756888677	2:238,419,759	G/A	—	likely benign
rs79618460	2:238,419,959	C/T	—	benign
rs79213383	2:238,426,890	A/G	—	benign
rs3751111	2:238,426,953	G/T	—	benign
rs3751110	2:238,427,142	T/C	—	benign
rs3751109	2:238,427,194	T/C	—	benign
rs139288665	2:238,427,215	G/A	—	uncertain significance
rs3751108	2:238,427,223	G/A	—	likely benign
rs3751107	2:238,427,251	G/A	—	benign
rs181807989	2:238,427,258	G/A	—	likely benign
rs10176842	2:238,428,256	T/C	—	benign
rs56853932	2:238,428,327	T/C	—	benign
rs57140815	2:238,428,330	A/G	—	benign
rs3751106	2:238,428,418	A/G	—	benign
rs75559690	2:238,428,454	T/C	—	benign
rs3751105	2:238,428,459	G/A	—	benign
rs754853944	2:238,428,560	G/A	—	uncertain significance
rs367767915	2:238,428,576	C/T	—	benign
rs199596806	2:238,428,577	G/A	—	uncertain significance
rs766524828	2:238,428,588	C/T	—	likely benign
rs1385877982	2:238,428,621	A/C	—	uncertain significance
rs145871473	2:238,428,631	C/G	—	uncertain significance
rs200220846	2:238,428,687	G/A	—	likely benign
rs55919896	2:238,428,823	A/T	—	benign
rs78063959	2:238,428,961	G/A	—	benign
rs6705903	2:238,433,955	T/C	—	benign
rs6705908	2:238,433,965	T/C	—	benign
rs1311645199	2:238,434,244	T/A	—	uncertain significance
rs768370444	2:238,434,245	C/G	—	uncertain significance
rs2292881	2:238,434,249	C/T	—	benign
rs2469723058	2:238,434,254	A/G	—	likely benign
rs199710882	2:238,434,274	G/A	—	uncertain significance
rs763184902	2:238,434,296	G/A	—	uncertain significance
rs2469723486	2:238,434,306	G/A	—	likely benign
rs779729023	2:238,434,353	C/A	—	uncertain significance
rs747826191	2:238,434,378	C/T	—	likely benign
rs140017366	2:238,434,379	G/A	—	likely benign
rs781593921	2:238,434,382	G/A	—	uncertain significance
rs139390935	2:238,434,401	C/T	—	likely benign
rs754596293	2:238,434,418	A/G	—	uncertain significance
rs752336181	2:238,434,425	C/T	—	uncertain significance
rs11883500	2:238,434,434	C/T	—	benign
rs11890255	2:238,434,605	A/G	—	benign
rs11891426	2:238,434,702	T/G	intron variant	benign
rs11890307	2:238,434,705	A/G	—	benign
rs369804254	2:238,436,024	G/A	—	likely benign
rs2469733068	2:238,436,029	T/C	—	uncertain significance
rs747284515	2:238,436,064	G/C	—	uncertain significance
rs373088038	2:238,436,067	G/A	—	uncertain significance
rs199717386	2:238,436,088	G/C	—	uncertain significance
rs1353818050	2:238,436,098	G/A	—	uncertain significance
rs75980625	2:238,436,105	C/T	—	likely benign
rs113169138	2:238,436,131	G/A	—	conflicting classifications of pathogenicity
rs375752977	2:238,436,164	C/T	—	likely benign
rs77194105	2:238,436,463	T/C	—	benign
rs77180399	2:238,442,951	G/A	—	benign
rs2292883	2:238,443,000	C/T	—	benign
rs13011946	2:238,443,025	C/T	—	benign
rs200063207	2:238,443,207	A/T	—	uncertain significance
rs2469768750	2:238,443,209	C/T	—	likely benign
rs2292884	2:238,443,226	A/G	missense variant	benign
rs77397270	2:238,443,257	C/T	—	benign
rs907301481	2:238,443,308	G/A	—	likely benign
rs2292885	2:238,443,407	G/C	—	benign
rs74970394	2:238,443,483	T/C	—	benign
rs12471827	2:238,443,509	G/A	—	benign
rs9646713	2:238,443,542	T/C	—	benign
rs13426236	2:238,447,940	A/G	intron variant	benign
rs13429533	2:238,448,712	A/G	—	benign
rs13429623	2:238,448,753	A/G	—	benign
rs74003113	2:238,448,768	C/T	—	benign

Showing 100 of 165 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.