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Variant (rsID / SNP)

rs6590110

HEPACAM

rs6590110 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEPACAM. Location: chromosome 11, position 124,805,984. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

HEPACAMBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:124805984
Cytoband
11q24.2
HGVS
NM_152722.4(HEPACAM):c.-82T>C
Allele change
Silent

Associated conditions / phenotypes

Megalencephalic leukoencephalopathy with subcortical cysts

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.