Variant ID: 12-102591490-T-C

NM_002674.2(PMCH):c.59A>G;(p.Gln20Arg)

This variant was identified in 1 publication




Publications:


Shine & Lal index as a predictor for early detection of β-thalassemia carriers in a limited resource area in Bandung, Indonesia.

Bmc Medical Genetics
AM Maskoen, L Reniarti, E Sahiratmadja, J Sisca, SH Effendi
Publication Date: 2019-08-09

Variant appearance in text: MCH: 59A>G
PubMed Link: 31399060
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000329406.4 c.59A>G p.Gln20Arg missense_variant 1/3 -
NM_002674.4 c.59A>G p.Gln20Arg missense_variant 1/3 -