Variant (rsID / SNP)

rs786205165

rs786205165 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTOR. Location: chromosome 1, position 11,217,230. 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: 1:11217230
Cytoband: 1p36.22
HGVS: NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe)
Allele change: Missense_C1483F

Associated conditions / phenotypes

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome|Renal cell carcinoma, papillary, 1|Breast neoplasm|Glioblastoma

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.