Variant ID: 12-102591547-A-G

NM_002674.2(PMCH):c.2T>C;(p.Met1?)

This variant was identified in 1 publication




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: 2T>C
PubMed Link: 28143837
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000329406.4 c.2T>C p.Met1? start_lost 1/3 -
NM_002674.4 c.2T>C p.Met1? start_lost 1/3 -