HGMD
The Human Gene Mutation Database

at the Institute of Medical Genetics in Cardiff

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HGMD Public site users

BLOC1S5 has yet to be included in the public version of HGMD. Mutation data are made freely available via the public version of HGMD 3 years after initial inclusion. If you wish to have access to up-to-date mutation data, they are available to BIOBASE subscribers via HGMD Professional 2023.4.

HGMD Professional subscribers

Gene SymbolChromosomal locationGene nameMutation totalLog in
BLOC1S56p24.3biogenesis of lysosomal organelles complex 1 subunit 55
If you are already an HGMD Professional subscriber, please log in using the button above to access the resource. If you are not yet a subscriber, please visit QIAGEN for further information regarding the many benefits of a subscription to HGMD Professional.

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