Variant ID: 12-102591323-C-G

NM_002674.2(PMCH):c.226G>C;(p.Glu76Gln)

This variant was identified in 2 publications




Publications:


HbD Punjab/HbQ India Compound Heterozygosity: An Unusual Association.

Mediterranean Journal Of Hematology And Infectious Diseases
S Colaco, R Surve, P Sawant, A Nadkarni, K Ghosh, R Colah
Publication Date: 2014

Variant appearance in text: MCH: 226G>C
PubMed Link: 25408858
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hemoglobin Q-Iran detected in family members from Northern Iran: a case report.

Journal Of Medical Case Reports
M Khorshidi, P Roshan, N Bayat, MR Mahdavi, H Najmabadi
Publication Date: 2012-02-06

Variant appearance in text: MCH: 226G>C
PubMed Link: 22309992
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000329406.4 c.226G>C p.Glu76Gln missense_variant 1/3 -
NM_002674.4 c.226G>C p.Glu76Gln missense_variant 1/3 -