rs3751692
This variant is located in the CHMP1A gene.
▶ClinVar annotation
Likely Benign★★★☆
2 submitters1 publicationAbout CHMP1A
This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
View all CHMP1A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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