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KMT2D c.5158G>C ;(p.V1720L)
Variant ID: 12-49438013-C-G
NM_003482.3(
KMT2D
):c.5158G>C;(p.V1720L)
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:
Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Tolusso, Leandra K LK; Hazelton, Paige P; Wong, Beatrix B; Swarr, Daniel T DT
Publication Date: 2021-05
Variant appearance in text: KMT2D: 5158G>C
PubMed Link:
33442022
Variant Present in the following documents:
41436_2020_Article_1067.pdf
View BVdb publication page