Variant ID: 12-102591507-AA-A

NM_002674.2(PMCH):c.46del;(p.Ser16Leufs*15)

This variant was identified in 1 publication




Publications:


Thalassemia intermedia phenotype resulting from rare combination of c.46delT [Codon15 (-T)] mutation of beta globin gene and HPFH3.

Clinical Case Reports
AJ Kelkar, A Moses
Publication Date: 2017-07

Variant appearance in text: MCH: 46delT
PubMed Link: 28680605
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000329406.4 c.41del p.Thr14Ilefs*17 frameshift_variant 1/3 -
NM_002674.4 c.41del p.Thr14Ilefs*17 frameshift_variant 1/3 -