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KMT2D c.1941A>G ;(p.P647=)
Variant ID: 12-49445525-T-C
NM_003482.3(
KMT2D
):c.1941A>G;(p.P647=)
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:
Co-occurrence CDK4/6 amplification serves as biomarkers of de novo EGFR TKI resistance in sensitizing EGFR mutation non-small cell lung cancer.
Scientific Reports
Sitthideatphaiboon, Piyada P; Teerapakpinyo, Chinachote C; Korphaisarn, Krittiya K; Leelayuwatanakul, Nophol N; Pornpatrananrak, Nopporn N; Poungvarin, Naravat N; Chantranuwat, Poonchavist P; Shuangshoti, Shanop S; Aporntewan, Chatchawit C; Chintanapakdee, Wariya W; Sriuranpong, Virote V; Vinayanuwattikun, Chanida C
Publication Date: 2022-02-09
Variant appearance in text: KMT2D: P647P
PubMed Link:
35140316
Variant Present in the following documents:
41598_2022_6239_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page
Co-occurrence CDK4/6 amplification serves as biomarkers of de novo EGFR TKI resistance in sensitizing EGFR mutation non-small cell lung cancer.
Scientific Reports
Sitthideatphaiboon, Piyada P; Teerapakpinyo, Chinachote C; Korphaisarn, Krittiya K; Leelayuwatanakul, Nophol N; Pornpatrananrak, Nopporn N; Poungvarin, Naravat N; Chantranuwat, Poonchavist P; Shuangshoti, Shanop S; Aporntewan, Chatchawit C; Chintanapakdee, Wariya W; Sriuranpong, Virote V; Vinayanuwattikun, Chanida C
Publication Date: 2022-02-09
Variant appearance in text: KMT2D: P647P
PubMed Link:
35140316
Variant Present in the following documents:
41598_2022_6239_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page
Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.
Scientific Reports
Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK
Publication Date: 2014-11-14
Variant appearance in text: KMT2D: P647P
PubMed Link:
25394353
Variant Present in the following documents:
srep07063-s2.xls, sheet 2
View BVdb publication page