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Variant (rsID / SNP)

rs10790715

HEPACAM

rs10790715 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEPACAM. Location: chromosome 11, position 124,793,682. Clinical significance in the table: Benign.

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Reference-table entries

HEPACAMBenign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
11:124793682
Cytoband
11q24.2
HGVS
NM_152722.5(HEPACAM):c.652A>G (p.Met218Val)
Allele change
Missense_M218V

Associated conditions / phenotypes

Megalencephalic leukoencephalopathy with subcortical cysts|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.