Variant (rsID / SNP)

rs115892604

rs115892604 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAGEL2. Location: chromosome 15, position 23,891,852. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MAGEL2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:23891852
Cytoband: 15q11.2
HGVS: NM_019066.5(MAGEL2):c.1038G>C (p.Arg346Ser)
Allele change: Missense_R346S

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.