Variant (rsID / SNP)

rs878855328

rs878855328 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTOR. Location: chromosome 1, position 11,177,096. Clinical significance in the table: Pathogenic.

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Reference-table entries

MTORPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:11177096
Cytoband: 1p36.22
HGVS: NM_004958.4(MTOR):c.6981G>A (p.Met2327Ile)
Allele change: Missense_M2327I

Associated conditions / phenotypes

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

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.