Table A.

ATP6V0A2-Related Cutis Laxa: Genes and Databases

GeneChromosome LocusProteinLocus-Specific DatabasesHGMDClinVar
ATP6V0A2 12q24​.31 V-type proton ATPase 116 kDa subunit a 2 ATP6V0A2 database ATP6V0A2 ATP6V0A2

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

From: ATP6V0A2-Related Cutis Laxa

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