Variant (rsID / SNP)

rs3802904

rs3802904 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEPACAM. Location: chromosome 11, position 124,789,755. 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: 11:124789755
Cytoband: 11q24.2
HGVS: NM_152722.5(HEPACAM):c.*1279A>G
Allele change: Missense_W37R

Associated conditions / phenotypes

Megalencephalic leukoencephalopathy with subcortical cysts

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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