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PTEN c.344A>C ;(p.D115A)
Variant ID: 10-89692860-A-C
NM_000314.4(
PTEN
):c.344A>C;(p.D115A)
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:
A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.
Nature Communications
Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ
Publication Date: 2021-02-10
Variant appearance in text: PTEN: 344A>C; Asp115Ala
PubMed Link:
33568653
Variant Present in the following documents:
41467_2021_21081_MOESM8_ESM.xlsx, sheet 3
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: D115A
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page