Variant (rsID / SNP)

rs397515225

rs397515225 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,130,367. The table records no clinical significance for this variant.

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Reference-table entries

TSC2Not classified

Variant type: single nucleotide variant
Chromosome / position: 16:2130367
Cytoband: 16p13.3
HGVS: NM_000548.5(TSC2):c.3599G>C (p.Arg1200Pro)
Allele change: Missense_R1157Q

Associated conditions / phenotypes

Tuberous sclerosis 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.