KMT2D c.5A>G ;(p.D2G)

Variant ID: 12-49449103-T-C

NM_003482.3(KMT2D):c.5A>G;(p.D2G)

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:

Novel heterozygous variants in KMT2D associated with holoprosencephaly.

Clinical Genetics
Tekendo-Ngongang, Cedrik C; Kruszka, Paul P; Martinez, Ariel F AF; Muenke, Maximilian M
Publication Date: 2019-09

Variant appearance in text: KMT2D: 5A>G; Asp2Gly
PubMed Link: 31282990
Variant Present in the following documents:
  • Main text
View BVdb publication page