EP300 c.730-2506T>C

Variant ID: 22-41519362-T-C

NM_001429.3(EP300):c.730-2506T>C

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:

Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study.

Bmc Medical Genetics
Lu, Wei W; Guzman, Adrian R AR; Yang, Wei W; Chapa, Claudia J CJ; Shaw, Gary M GM; Greene, Robert M RM; Pisano, M Michele MM; Lammer, Edward J EJ; Finnell, Richard H RH; Zhu, Huiping H
Publication Date: 2010-10-08

Variant appearance in text: rs4822006
PubMed Link: 20932315
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-141.pdf
View BVdb publication page