Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.L79V
Back to variants list

HBB

NM_000518.5:p.L79V

Associated Papers

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Tamana S et al.

Elife, 2022

36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-HBB

Hb Kalundborg [β79(EF3)Asp→Glu; HBB: c.240C>a], a Possible Low-affinity Hemoglobin Variant Detected during Hb A1c Measurement.

Ahmad-Nielsen EB et al.

Hemoglobin, 2022

Hb A2-Calderdale [δ2(NA2)His→Asn; HBD: c.7C>A] and Misdiagnosis of Type 2 Diabetes Mellitus Due to Interference with Hb A1c When Using Cation Exchange High Performance Liquid Chromatography: A Case Report.

Stangerup I et al.

Hemoglobin, 2021

Hb Penang [β78(EF2)Leu→Pro, HBB: c.236T>C]: a Novel β-Globin Variant.

Hsu CH et al.

Hemoglobin, 2018

Hb Belluno [β111(G13)Val→Gly;β133(H11)Val→Val (HBB: c.335T > G;402G > C)]: Incidental Detection of a New Clinically Silent β Chain Variant During Hb A1c Determination by High Performance Liquid Chromatography.

Pianezze G et al.

Hemoglobin, 2016

Interference of common haemoglobin variants with the Tosoh G7 standard mode HbA1c method.

Piehler AP et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2015

Hb Ullevaal [β78(EF2)Leu→Val; HBB: c.235C>G], a new hemoglobin variant interfering with Hb A1c measurement using a cation exchange high performance liquid chromatography method.

Grimholt RM et al.

Hemoglobin, 2014

First observation of Hb Ullevaal [β78(EF2) Leu>Val] in Turkey.

Hocaoglu-Emre FS et al.

Revista Brasileira De Hematologia E Hemoterapia, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."