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KMT2D c.13999+5G>A
Variant ID: 12-49424058-C-T
NM_003482.3(
KMT2D
):c.13999+5G>A
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Human Mutation
Micale, Lucia L; Augello, Bartolomeo B; Maffeo, Claudia C; Selicorni, Angelo A; Zucchetti, Federica F; Fusco, Carmela C; De Nittis, Pasquelena P; Pellico, Maria Teresa MT; Mandriani, Barbara B; Fischetto, Rita R; Boccone, Loredana L; Silengo, Margherita M; Biamino, Elisa E; Perria, Chiara C; Sotgiu, Stefano S; Serra, Gigliola G; Lapi, Elisabetta E; Neri, Marcella M; Ferlini, Alessandra A; Cavaliere, Maria Luigia ML; Chiurazzi, Pietro P; Monica, Matteo Della MD; Scarano, Gioacchino G; Faravelli, Francesca F; Ferrari, Paola P; Mazzanti, Laura L; Pilotta, Alba A; Patricelli, Maria Grazia MG; Bedeschi, Maria Francesca MF; Benedicenti, Francesco F; Prontera, Paolo P; Toschi, Benedetta B; Salviati, Leonardo L; Melis, Daniela D; Di Battista, Eliana E; Vancini, Alessandra A; Garavelli, Livia L; Zelante, Leopoldo L; Merla, Giuseppe G
Publication Date: 2014-07
Variant appearance in text: KMT2D: 13999+5G>A
PubMed Link:
24633898
Variant Present in the following documents:
Main text
humu0035-0841-SD2.pdf
humu0035-0841.pdf
View BVdb publication page