Bibliome.ai browser hg19
Search
About
Stats
FAQ
DNMT3A c.640-12000C>T
Variant ID: 2-25483121-G-A
NM_022552.4(
DNMT3A
):c.640-12000C>T
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic regulation of linear growth.
Annals Of Pediatric Endocrinology & Metabolism
Yue, Shanna S; Whalen, Philip P; Jee, Youn Hee YH
Publication Date: 2019-03
Variant appearance in text: rs10460566
PubMed Link:
30943674
Variant Present in the following documents:
Main text
apem-2019-24-1-2.pdf
View BVdb publication page
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
American Journal Of Human Genetics
Tatton-Brown, Katrina K; Loveday, Chey C; Yost, Shawn S; Clarke, Matthew M; Ramsay, Emma E; Zachariou, Anna A; Elliott, Anna A; Wylie, Harriet H; Ardissone, Anna A; Rittinger, Olaf O; Stewart, Fiona F; Temple, I Karen IK; Cole, Trevor T; , ; Mahamdallie, Shazia S; Seal, Sheila S; Ruark, Elise E; Rahman, Nazneen N
Publication Date: 2017-05-04
Variant appearance in text: rs10460566
PubMed Link:
28475857
Variant Present in the following documents:
mmc3.pdf
View BVdb publication page