Gene Mutations
 
Records Return:  (14) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
HBB14190014190011p15.5-87C>G0374BETA-PLUS-THALASSEMIA1
HBB14190014190011p15.51-BP INS, A, BETWEEN CODONS 71 AND 72 BETA-ZERO-THALASSEMIA1
HBB14190014190011p15.5GLN39TER0312BETA-ZERO-THALASSEMIA2
HBB14190014190011p15.5GLU101ASP0225HEMOGLOBIN POTOMAC1
HBB14190014190011p15.5GLU26LYS (GLU27LYS; c.79G>A)0071HEMOGLOBIN E3
HBB14190014190011p15.5GLU6LYS0038HEMOGLOBIN C1
HBB14190014190011p15.5GLU6VAL0243HEMOGLOBIN S3
HBB14190014190011p15.5IVS1, G>A, +10346BETA-ZERO-THALASSEMIA1
HBB14190014190011p15.5IVS1, G>A, +1100364BETA-PLUS-THALASSEMIA3
HBB14190014190011p15.5IVS1, T>C, +60360BETA-PLUS-THALASSEMIA2
HBB14190014190011p15.5IVS2, C>G, +7450367BETA-PLUS-THALASSEMIA1
HBB14190014190011p15.5IVS2, C>T, +6540368BETA-ZERO-THALASSEMIA1
HBB14190014190011p15.5IVS2, G>A, +10348BETA-ZERO-THALASSEMIA2
HBB14190014190011p15.5LYS83ASN (c.249G>C)0227HEMOGLOBIN PROVIDENCE6