Variant ID: 12-102591332-A-AT

NM_002674.2(PMCH):c.216_217insA;(p.Phe73Ilefs*8)

This variant was identified in 2 publications




Publications:


Haematological and electrophoretic characterisation of β-thalassaemia in Yunnan province of Southwestern China.

Bmj Open
J Zhang, J He, X Mao, X Zeng, H Chen, J Su, B Zhu
Publication Date: 2017-01-31

Variant appearance in text: MCH: 216_217insA
PubMed Link: 28143837
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation screening for thalassaemia in the Jino ethnic minority population of Yunnan Province, Southwest China.

Bmj Open
S Wang, R Zhang, G Xiang, Y Li, X Hou, F Jiang, F Jiang, C Hu, W Jia
Publication Date: 2015-12-29

Variant appearance in text: MCH: 216_217insA
PubMed Link: 26715484
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000329406.4 c.216_217insA p.Phe73Ilefs*8 frameshift_variant 1/3 -
NM_002674.4 c.216_217insA p.Phe73Ilefs*8 frameshift_variant 1/3 -