Variant (rsID / SNP)

rs55881943

rs55881943 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTOR. Location: chromosome 1, position 11,298,640. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MTORConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:11298640
Cytoband: 1p36.22
HGVS: NM_004958.4(MTOR):c.1821G>A (p.Ala607=)
Allele change: Synonymous_A607A

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.