KMT2C c.12599A>C ;(p.H4200P)

Variant ID: 7-151848594-T-G

NM_170606.2(KMT2C):c.12599A>C;(p.H4200P)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Exome sequencing identifies three novel candidate genes implicated in intellectual disability.

Plos One
Agha, Zehra Z; Iqbal, Zafar Z; Azam, Maleeha M; Ayub, Humaira H; Vissers, Lisenka E L M LE; Gilissen, Christian C; Ali, Syeda Hafiza Benish SH; Riaz, Moeen M; Veltman, Joris A JA; Pfundt, Rolph R; van Bokhoven, Hans H; Qamar, Raheel R
Publication Date: 2014

Variant appearance in text: KMT2C: 12599A>C
PubMed Link: 25405613
Variant Present in the following documents:
  • Main text
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