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. 2018 Dec;4(6):a003269. doi: 10.1101/mcs.a003269

Table 2.

PTEN R130 site variant information

Gene Chr:pos HGVS DNA reference HGVS protein reference Variant type Predicted effect dbSNP Genotype ClinVar ID
PTEN 10:87933147-87933147 c.388C>G R130G Missense Pathogenic 121909224 Heterozygous 375958
10:87933148-87933148 c.389G>A R130Q Missense Pathogenic 121909229 Heterozygous 7829
10:87933147-87933147 c.388C>T R130* Nonsense Pathogenic 121909224 Heterozygous 7819

HGVS, Human Genome Variation Society; dbSNP, Single Nucleotide Polymorphism database.