This sequence change occurs on Chromosome 11, altering LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Hereditary pheochromocytoma-paraganglioma