Variant (rsID / SNP)

rs1057518322

rs1057518322 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,127,629. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TSC2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: Deletion
Chromosome / position: 16:2127629
Cytoband: 16p13.3
HGVS: NM_000548.5(TSC2):c.2868del (p.Gly956_Leu957insTer)

Associated conditions / phenotypes

Tuberous sclerosis 2

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.