KMT2D c.7960del ;(p.S2654Afs*37)

Variant ID: 12-49433593-CT-C

NM_003482.3(KMT2D):c.7960del;(p.S2654Afs*37)

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:

Recurrent SMARCB1 Inactivation in Epithelioid Malignant Peripheral Nerve Sheath Tumors.

The American Journal Of Surgical Pathology
Schaefer, Inga-Marie IM; Dong, Fei F; Garcia, Elizabeth P EP; Fletcher, Christopher D M CDM; Jo, Vickie Y VY
Publication Date: 2019-06

Variant appearance in text: KMT2D: 7960delA; S2654fs
PubMed Link: 30864974
Variant Present in the following documents:
  • Main text
View BVdb publication page