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KMT2D c.3809C>G ;(p.S1270*)
Variant ID: 12-49443562-G-C
NM_003482.3(
KMT2D
):c.3809C>G;(p.S1270*)
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:
Inborn Errors of Immunity in Latvia: Analysis of Data from 1994 to 2020.
Journal Of Clinical Immunology
Prokofjeva, Tatjana T; Lucane, Zane Z; Kovalova, Zanna Z; Kurjane, Natalja N
Publication Date: 2022-05
Variant appearance in text: KMT2D: 3809C>G
PubMed Link:
35201558
Variant Present in the following documents:
10875_2022_1229_MOESM1_ESM.pdf
View BVdb publication page