KMT2D c.3587C>T ;(p.P1196L)

Variant ID: 12-49443784-G-A

NM_003482.3(KMT2D):c.3587C>T;(p.P1196L)

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:

Primary immunodeficiency-related genes in neonatal intensive care unit patients with various genetic immune abnormalities: a multicentre study in China.

Clinical & Translational Immunology
Zhu, Tianwen T; Gong, Xiaohui X; Bei, Fei F; Ma, Li L; Sun, Jingjing J; Wang, Jian J; Qiu, Gang G; Sun, Jianhua J; Sun, Yu Y; Zhang, Yongjun Y
Publication Date: 2021

Variant appearance in text: KMT2D: 3587C>T
PubMed Link: 33777394
Variant Present in the following documents:
  • CTI2-10-e1266.pdf
View BVdb publication page