KMT2C c.3650T>C ;(p.L1217P)

Variant ID: 7-151917670-A-G

NM_170606.2(KMT2C):c.3650T>C;(p.L1217P)

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:

High-impact FN1 mutation decreases chondrogenic potential and affects cartilage deposition via decreased binding to collagen type II.

Science Advances
van Hoolwerff, Marcella M; Rodríguez Ruiz, Alejandro A; Bouma, Marga M; Suchiman, H Eka D HED; Koning, Roman I RI; Jost, Carolina R CR; Mulder, Aat A AA; Freund, Christian C; Guilak, Farshid F; Ramos, Yolande F M YFM; Meulenbelt, Ingrid I
Publication Date: 2021-11-05

Variant appearance in text: MLL3: L1217P
PubMed Link: 34739320
Variant Present in the following documents:
  • sciadv.abg8583_sm.pdf
View BVdb publication page