Variant ID: 12-102591420-ACCTG-A

NM_002674.2(PMCH):c.126_129del;(p.Arg43Trpfs*31)

This variant was identified in 1 publication




Publications:


LOVD-DASH: A comprehensive LOVD database coupled with diagnosis and an at-risk assessment system for hemoglobinopathies.

Human Mutation
L Zhang, Q Zhang, Y Tang, P Cong, Y Ye, S Chen, X Zhang, Y Chen, B Zhu, W Cai, S Chen, R Cai, X Guo, C Zhang, Y Zhou, J Zou, Y Liu, B Chen, S Yan, Y Chen, Y Zhou, H Ding, X Li, D Chen, J Zhong, X Shang, X Liu, M Qi, X Xu
Publication Date: 2019-12

Variant appearance in text: MCH: 126_129del
PubMed Link: 31286593
Variant Present in the following documents:
  • HUMU-40-2221-s002.docx
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000329406.4 c.125_128del p.Phe42Cysfs*32 frameshift_variant 1/3 -
NM_002674.4 c.125_128del p.Phe42Cysfs*32 frameshift_variant 1/3 -