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Variant (rsID / SNP)

rs749030456

TSC1

rs749030456 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,804,196. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TSC1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:135804196
Cytoband
9q34.13
HGVS
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp)
Allele change
Missense_R22W

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.