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KMT2D c.15104G>A ;(p.C5035Y)
Variant ID: 12-49420645-C-T
NM_003482.3(
KMT2D
):c.15104G>A;(p.C5035Y)
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:
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Molecular Medicine (Cambridge, Mass.)
Seo, Go Hun GH; Lee, Hane H; Lee, Jungsul J; Han, Heonjong H; Cho, You Kyung YK; Kim, Minji M; Choi, Yunha Y; Choi, Jeongmin J; Choi, In Hee IH; Rhie, Seonkyeong S; Chae, Kyu Young KY; Kim, Yoo-Mi YM; Cheon, Chong Kun CK; Kim, Su Jin SJ; Lee, Jieun J; Kang, Eungu E; Byeon, Jung Hye JH; Yu, Hee Joon HJ; Shin, Young-Lim YL; Oh, Arum A; Kim, Woo Jin WJ; Yum, Mi-Sun MS; Lee, Beom Hee BH; Eun, Baik-Lin BL
Publication Date: 2022-03-26
Variant appearance in text: KMT2D: 15104G>A; Cys5035Tyr
PubMed Link:
35346031
Variant Present in the following documents:
10020_2022_464_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page