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)
|