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PTEN c.326A>C ;(p.D109A)
Variant ID: 10-89692842-A-C
NM_000314.4(
PTEN
):c.326A>C;(p.D109A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer.
Genome Medicine
Bonazzi, Vanessa F VF; Kondrashova, Olga O; Smith, Deborah D; Nones, Katia K; Sengal, Asmerom T AT; Ju, Robert R; Packer, Leisl M LM; Koufariotis, Lambros T LT; Kazakoff, Stephen H SH; Davidson, Aimee L AL; Ramarao-Milne, Priya P; Lakis, Vanessa V; Newell, Felicity F; Rogers, Rebecca R; Davies, Claire C; Nicklin, James J; Garrett, Andrea A; Chetty, Naven N; Perrin, Lewis L; Pearson, John V JV; Patch, Ann-Marie AM; Waddell, Nicola N; Pollock, Pamela M PM
Publication Date: 2022-01-10
Variant appearance in text: PTEN: 326A>C; Asp109Ala
PubMed Link:
35012638
Variant Present in the following documents:
13073_2021_990_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer.
Genome Medicine
Bonazzi, Vanessa F VF; Kondrashova, Olga O; Smith, Deborah D; Nones, Katia K; Sengal, Asmerom T AT; Ju, Robert R; Packer, Leisl M LM; Koufariotis, Lambros T LT; Kazakoff, Stephen H SH; Davidson, Aimee L AL; Ramarao-Milne, Priya P; Lakis, Vanessa V; Newell, Felicity F; Rogers, Rebecca R; Davies, Claire C; Nicklin, James J; Garrett, Andrea A; Chetty, Naven N; Perrin, Lewis L; Pearson, John V JV; Patch, Ann-Marie AM; Waddell, Nicola N; Pollock, Pamela M PM
Publication Date: 2022-01-10
Variant appearance in text: PTEN: 326A>C; Asp109Ala
PubMed Link:
35012638
Variant Present in the following documents:
13073_2021_990_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: PTEN: D109A
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page