KMT2D c.5256_5257del ;(p.K1753Afs*34)

Variant ID: 12-49437712-TTC-T

NM_003482.3(KMT2D):c.5256_5257del;(p.K1753Afs*34)

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:

Kabuki syndrome: clinical and molecular characteristics.

Korean Journal Of Pediatrics
Cheon, Chong-Kun CK; Ko, Jung Min JM
Publication Date: 2015-09

Variant appearance in text: KMT2D: 5256_5257delGA; K1753Afs*34
PubMed Link: 26512256
Variant Present in the following documents:
  • Main text
  • kjped-58-317.pdf
View BVdb publication page