KMT2D c.111T>A ;(p.H37Q)

Variant ID: 12-49448748-A-T

NM_003482.3(KMT2D):c.111T>A;(p.H37Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Human Genomics
Nassir, Nasna N; Bankapur, Asma A; Samara, Bisan B; Ali, Abdulrahman A; Ahmed, Awab A; Inuwa, Ibrahim M IM; Zarrei, Mehdi M; Safizadeh Shabestari, Seyed Ali SA; AlBanna, Ammar A; Howe, Jennifer L JL; Berdiev, Bakhrom K BK; Scherer, Stephen W SW; Woodbury-Smith, Marc M; Uddin, Mohammed M
Publication Date: 2021-11-21

Variant appearance in text: KMT2D: H37Q
PubMed Link: 34802461
Variant Present in the following documents:
  • 40246_2021_368_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page