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Variant (rsID / SNP)

rs387907053

HEPACAM

rs387907053 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEPACAM. Location: chromosome 11, position 124,794,786. Clinical significance in the table: Pathogenic.

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Reference-table entries

HEPACAMPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:124794786
Cytoband
11q24.2
HGVS
NM_152722.5(HEPACAM):c.265G>A (p.Gly89Ser)
Allele change
Missense_G89S

Associated conditions / phenotypes

Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability|Megalencephalic leukoencephalopathy with subcortical cysts 2A

Public references

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