Variant ID: 12-102591521-T-TC

NM_002674.2(PMCH):c.27_28insG;(p.Ile10Aspfs*26)

This variant was identified in 2 publications




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: 27_28insG
PubMed Link: 31399060
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach.

The Application Of Clinical Genetics
PS Shah, ND Shah, HSP Ray, NB Khatri, KK Vaghasia, RJ Raval, SC Shah, MV Rao
Publication Date: 2017

Variant appearance in text: MCH: 27_28insG
PubMed Link: 28546763
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000329406.4 c.27_28insG p.Ile10Aspfs*26 frameshift_variant 1/3 -
NM_002674.4 c.27_28insG p.Ile10Aspfs*26 frameshift_variant 1/3 -