HbVar: A database of Human Hemoglobin Variants and Thalassemias

HbVar ID 2526

HGVS name HBG2:c.62T>C

Category

Hb variants

Mutation location

exon
hg38: chr11 5,254,667

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Hematology and Clinical Presentation

	Clinical presentation	Laboratory findings	Comments
	Anemia	Microcytosis Hypochromia Hb 8.4 g/dL Hb A 39 % Hb F 59 % MCH 26 pg MCV 76 fL RBC 3.25 10^12/L	microcytosis probably due to interaction between F-Bron and alpha thal 3.7 kbp deletion

Mutation sequence analysis

DNA sequence changes are Experimental;
Protein sequence changes are Experimental;
GTG>GCG at codon 20 in Ggamma
For Ala the difference in mass is -28 units

External links

MESH: C508164
dbSNP rs63751196
S3V2-IDEAS cCRE: hg38_chr11_5254200_5255200

Overlapping SNP(s) from dbSNP

rs63751196
   MAF
      G=0.001405/7(1000Genomes)
      G=0.001586/10(ExAC)
      G=0.000015/2(GnomAD)
      G=0.000542/55(GnomAD_exomes)
      G=0.000048/1(ALFA)
   HGVS
      NC_000011.10:g.5254667A>G, NC_000011.9:g.5275897A>G, NG_000007.3:g.42949T>C, NM_000184.3:c.62T>C, ...