KMT2C c.967del ;(p.I323Sfs*32)

Variant ID: 7-151970835-AT-A

NM_170606.2(KMT2C):c.967del;(p.I323Sfs*32)

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:

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Schoch, Kelly K; Tan, Queenie K-G QK; Stong, Nicholas N; Deak, Kristen L KL; McConkie-Rosell, Allyn A; McDonald, Marie T MT; , ; Goldstein, David B DB; Jiang, Yong-Hui YH; Shashi, Vandana V
Publication Date: 2020-07

Variant appearance in text: KMT2C: 967delA
PubMed Link: 32366967
Variant Present in the following documents:
  • Main text
  • nihms-1595412.pdf
View BVdb publication page