Gene MOCS2
Variant nomenclature Variant nomenclature
cDNA Level: NM_004531.3: c.472_477del
gDNA Level: Chr5(GRCh38):g.53100435_53100440del
Protein Level: NP_004522.1: p.(Leu158_Lys159del)
Variant type inframe deletion
Zygosity homozygous
Allele frequency* -
Classification VUS
Disease
Molybdenum cofactor deficiency B (autosomal recessive)