KMT2D c.2527T>C ;(p.S843P)

Variant ID: 12-49444939-A-G

NM_003482.3(KMT2D):c.2527T>C;(p.S843P)

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:

ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.

Molecular Genetics & Genomic Medicine
de la Morena-Barrio, María Eugenia ME; Sabater, María M; de la Morena-Barrio, Belén B; Ruhaak, Renee L RL; Miñano, Antonia A; Padilla, José J; Toderici, Mara M; Roldán, Vanessa V; Gimeno, Juan R JR; Vicente, Vicente V; Corral, Javier J
Publication Date: 2020-08

Variant appearance in text: KMT2D: 2527T>C; Ser843Pro
PubMed Link: 32530140
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1304.pdf
View BVdb publication page