Variant (rsID / SNP)

rs777988634

rs777988634 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2, NTHL1. Location: chromosome 16, position 2,098,717. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TSC2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:2098717
Cytoband: 16p13.3
HGVS: NM_000548.5(TSC2):c.101A>C (p.Lys34Thr)
Allele change: Missense_K34T

Associated conditions / phenotypes

Tuberous sclerosis 2|Hereditary cancer-predisposing 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.