Variant (rsID / SNP)

rs7862221

rs7862221 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,782,221. Clinical significance in the table: Benign.

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Reference-table entries

TSC1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:135782221
Cytoband: 9q34.13
HGVS: NM_000368.5(TSC1):c.1335A>G (p.Glu445=)
Allele change: Synonymous_E394E

Associated conditions / phenotypes

Tuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Isolated focal cortical dysplasia type II|Tuberous sclerosis 1

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.