Variant (rsID / SNP)

rs74570840

rs74570840 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEPACAM. Location: chromosome 11, position 124,794,712. 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: 11:124794712
Cytoband: 11q24.2
HGVS: NM_152722.5(HEPACAM):c.339G>A (p.Gln113=)
Allele change: Synonymous_Q113Q

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.