KMT2D c.13899G>A ;(p.S4633=)

Variant ID: 12-49424163-C-T

NM_003482.3(KMT2D):c.13899G>A;(p.S4633=)

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:

Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.

Npj Genomic Medicine
Sakaguchi, Narumi N; Suyama, Mikita M
Publication Date: 2022-03-18

Variant appearance in text: KMT2D: 13899G>A; Ser4633Ser; rs1286725448
PubMed Link: 35304488
Variant Present in the following documents:
  • 41525_2022_294_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page