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KMT2D c.12696G>T ;(p.Q4232H)
Variant ID: 12-49425792-C-A
NM_003482.3(
KMT2D
):c.12696G>T;(p.Q4232H)
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:
Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.
Orphanet Journal Of Rare Diseases
Shangguan, Huakun H; Su, Chang C; Ouyang, Qian Q; Cao, Bingyan B; Wang, Jian J; Gong, Chunxiu C; Chen, Ruimin R
Publication Date: 2019-11-14
Variant appearance in text: KMT2D: Q4232H
PubMed Link:
31727177
Variant Present in the following documents:
Main text
13023_2019_Article_1219.pdf
View BVdb publication page