KMT2D c.4981del ;(p.E1661Sfs*61)

Variant ID: 12-49438287-TC-T

NM_003482.3(KMT2D):c.4981del;(p.E1661Sfs*61)

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: Identification of Two Novel Variants in KMT2D and KDM6A.

Molecular Syndromology
Khodaeian, Mehrnoosh M; Jafarinia, Ehsan E; Bitarafan, Fatemeh F; Shafeii, Shohreh S; Almadani, Navid N; Daneshmand, Mohammad Ali MA; Garshasbi, Masoud M
Publication Date: 2021-04

Variant appearance in text: KMT2D: 4981_4981delG; Glu1661Serfs*61
PubMed Link: 34012382
Variant Present in the following documents:
  • Main text
View BVdb publication page