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KMT2D c.8382C>A ;(p.G2794=)
Variant ID: 12-49432757-G-T
NM_003482.3(
KMT2D
):c.8382C>A;(p.G2794=)
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:
Genetic variants in African-American and Hispanic patients with breast cancer.
Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02
Variant appearance in text: KMT2D: 8382C>A; G2794G
PubMed Link:
36644153
Variant Present in the following documents:
Supplementary_Data5.xlsx, sheet 1
View BVdb publication page
The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.
Epigenetics
Aref-Eshghi, Erfan E; Schenkel, Laila C LC; Lin, Hanxin H; Skinner, Cindy C; Ainsworth, Peter P; Paré, Guillaume G; Rodenhiser, David D; Schwartz, Charles C; Sadikovic, Bekim B
Publication Date: 2017
Variant appearance in text: KMT2D: 8382C>A; G2794G
PubMed Link:
28933623
Variant Present in the following documents:
Main text
View BVdb publication page