Full data view for gene HBB

Information The variants shown are described using the NM_000518.4 transcript reference sequence.

21013 entries on 211 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Population     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - - - r.? p.? Paternal (confirmed) ACMG pathogenic (recessive) g.5248402G>A g.5227172G>A c.-151C>T - HBB_001031 ACMG PS3, PM2, PP5 PubMed: Marinakis 2021 - rs63751208 Germline - - - - - DNA SEQ, SEQ-NG - clinical exome sequencing ? 20094 PubMed: Marinakis 2021 - M - Greece - - - - - 1 Jan Traeger-Synodinos
+/. - - - r.(=) p.(=) Parent #1 - pathogenic (recessive) g.5248330T>C g.5227100T>C c.-79A>G - HBB_001089 combination alleles not determined PubMed: Reiner 2022 - - Germline - 1/73755 controls - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - 1 Johan den Dunnen
+/. - - - r.(=) p.(=) Parent #1 - pathogenic (recessive) g.5248389G>A g.5227159G>A c.-138C>T - HBB_001078 combination alleles not determined PubMed: Reiner 2022 - - Germline - 1/73755 controls - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - 1 Johan den Dunnen
+/. - - - r.(=) p.(=) Parent #1 - pathogenic (recessive) g.5248330T>C g.5227100T>C c.-79A>G - HBB_001089 - PubMed: Reiner 2022 - - Germline - 1/73755 controls - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - 1 Johan den Dunnen
+/. _1_2 c.-7020_264del Hb Lepore r.? p.? Both (homozygous) - pathogenic g.5247858_5255271del g.5226628_5234041del - - HBB_003189 Hb Lepore Boston Washington PubMed: Pirastru 2017, Journal: Pirastru 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - thalbeta 28553644-Pat PubMed: Pirastru 2017, Journal: Pirastru 2017 refugee child, parents not available - - Syria - - - - - 1 Johan den Dunnen
+/. _1_3_ c.-6259_*5720del Sicilian delta/beta del r.0? p.0? Parent #1 - pathogenic g.5241108_5254510del g.5219878_5233280del 5197684_5211086del (hg18) - HBB_001478 Sicilian delta/beta-thalassemia deletion PubMed: Phylipsen 2012, Journal: Phylipsen 2012 - - Germline - - - - - DNA arrayCNV, MLPA, PCR, SEQ - - thalbeta - PubMed: Phylipsen 2012, Journal: Phylipsen 2012 - - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.-2524_*8664del Dutch deletion r.0 p.0 Unknown - pathogenic g.5238170_5250781del g.5216940_5229551del Dutch (12620 bp deletion), NG_000007.3:g.68071_80682del12612 - HBB_004016 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-296 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2254G>A - r.(=) p.(=) Unknown - association g.5250505C>T g.5229275C>T - - HBB_004014 modifier anaemia Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. IthaNet-3189 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2038_*23951del Vietnamese, SE Asian deletion r.0 p.0 Unknown - pathogenic g.5222877_5250289del g.5201647_5229059del Vietnamese, SE Asian (HPFH-7, SEA-HPFH), NC_000011.10:g.5201647-5229059del27412bp - HBB_004012 HPFH, Hb F levels IthaNet-1505 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-1034_315+125del Croatian deletion r.0 p.0 Unknown - pathogenic g.5247682_5249285del g.5226452_5228055del Croatian (1605 bp deletion), NG_000007.3:g.69561_71164del1604 - HBB_004003 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-289 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-770_*1296del - r.0 p.0 Unknown - pathogenic g.5245532_5249021del g.5224302_5227791del 3.5 kb deletion, NC_000011.10:g.5224302-5227791del3490bp - HBB_004031 β-thalassaemia, Haemolytic anaemia IthaNet-3393 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-578_315+314del - r.0 p.0 Unknown - pathogenic g.5247493_5248829del g.5226263_5227599del 1357 bp deletion, NG_000007.3:g.69997_71353del1357 - HBB_004028 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-2150 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-535_315+413del Black, British deletion r.0 p.0 Unknown - pathogenic g.5247394_5248786del g.5226164_5227556del Black, British (1393 bp deletion), NG_000007.3:g.70060_71452del1393 - HBB_004027 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-288 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. _1_2 c.-528_251del Afghan deletion beta0 r.0? p.0? Unknown - VUS g.5247871_5248779del g.5226641_5227549del - - HBB_001678 Afghan deletion beta0 (909 bp del) data from Globin Gene Server (HbVar-2738), Old J (E-5816-2010), PubMed: Gallienne AE - - Germline - - - - - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - - - - 1 HbVar - Belinda Giardine and Ross Hardison
+/. - c.-528_251del - r.(=) p.(=) Unknown - pathogenic g.5247871_5248779del g.5226641_5227549del Afghan (909 bp deletion) - HBB_001678 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-2125 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.-519C>T - r.(=) p.(=) Unknown - benign g.5248770G>A g.5227540G>A -487 T>C - HBB_004026 - IthaNet-2036 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. _1_1i c.-504_28del - r.0? p.0? Unknown - VUS g.5248224_5248755del g.5226994_5227525del - - HBB_001268 532 bp deletion beta0 data from Globin Gene Server (HbVar-978), PubMed: Waye JS - - Germline - - - - - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - - - - 1 HbVar - Belinda Giardine and Ross Hardison
+/. - c.-504_28del - r.(=) p.(=) Unknown - pathogenic g.5248224_5248755del g.5226994_5227525del Black (532 bp deletion) - HBB_001268 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-285 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-464_74del - r.(=) p.(=) Unknown - VUS g.5248178_5248715del g.5226948_5227485del 538 bp deletion, NG_000007.3:g.70131_70668del - HBB_004024 β-thalassaemia IthaNet-3277 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.-390C>T - r.(=) p.(=) Unknown - benign g.5248641G>A g.5227411G>A -300 C>T - HBB_004022 - IthaNet-2037 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-390_316-169delinsA - r.spl? p.? Unknown - VUS g.5247125_5248641delinsT g.5225895_5227411delinsT 1517 bp deletion - HBB_004021 β-thalassaemia IthaNet-3278 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-275C>T - r.(=) p.(=) Unknown - association g.5248526G>A g.5227296G>A - - HBB_004017 modifier HbF levels Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. IthaNet-2869 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. _1 c.-273T>C - r.(?) p.(?) Unknown - VUS g.5248524A>G g.5227294A>G beta nt -42 C>G - HBB_001957 - Hbvar-?, PubMed: Nagar R - - Germline - - - - - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - - - - 1 HbVar - Belinda Giardine and Ross Hardison
?/. - c.-273T>C - r.(=) p.(=) Unknown - VUS g.5248524A>G g.5227294A>G -223 T>C - HBB_001957 β-thalassaemia IthaNet-3081 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-240G>A - r.(=) p.(=) Unknown - pathogenic g.5248491C>T g.5227261C>T -190 (G>A) - HBB_004001 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-1 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-235_-110del - r.(=) p.(=) Unknown - pathogenic g.5248361_5248486del g.5227131_5227256del 125 bp deletion, NG_000007.3:g.70360_70485del125 - HBB_004015 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-2122 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-223T>C - r.(=) p.(=) Unknown - VUS g.5248474A>G g.5227244A>G -50-173T>C - HBB_003038 - - - - Germline - - - - - DNA SEQ - - - - - Fam40920 - - (Netherlands) - - - - - 1 Kees Harteveld
-/. 1 c.-184G>C - r.(=) p.(=) Unknown - benign g.5248435C>G g.5227205C>G -50-134G>C - HBB_003098 - - - - Germline - - - - - DNA SEQ - - - - - Fam75119 - - (Netherlands) - - - - - 1 Kees Harteveld
-/. 1 c.-184G>C - r.(=) p.(=) Unknown - benign g.5248435C>G g.5227205C>G -50-134G>C - HBB_003098 - - - - Germline - - - - - DNA SEQ - - - - - Fam75119 - - (Netherlands) - - - - - 1 Kees Harteveld
-?/. 1 c.-180G>C - r.(=) p.(=) Unknown - likely benign g.5248431C>G g.5227201C>G -50-130G>C - HBB_003068 - - - - Germline - - - - - DNA SEQ - - - - - Fam49891 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. - c.-178_*440delinsCTTAT Kabylia deletion/insertion r.0 p.0 Unknown - pathogenic g.5246388_5248429delinsATAAG g.5225158_5227199delinsATAAG Kabylia deletion/insertion - HBB_004011 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-2153 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. _1 c.-176C>T - r.(?) p.(?) Unknown - VUS g.5248427G>A g.5227197G>A beta 107(+G) - HBB_001872 - data from Globin Gene Server (HbVar-2962), BASU Anupam (K-1838-2014)LALL Pinki; PANJA Amtita; SAHA Dipankar; HbVar A-2391-2010; - - Germline - - - - - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - - - - 1 HbVar - Belinda Giardine and Ross Hardison
-/- - c.-176C>T - r.(=) p.(=) Unknown - benign g.5248427G>A g.5227197G>A -126 C>T - HBB_001872 - IthaNet-2546 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.-176_92+25del - r.? p.? Unknown - pathogenic g.5248135_5248427del g.5226905_5227197del -50-126_92+25del - HBB_001267 - - - - Germline - - - - - DNA SEQ - - - - - Fam96846 - - (Netherlands) - - - - - 1 Kees Harteveld
+?/. _1_1i c.-176_92+25del - r.0? p.0? Unknown - VUS g.5248135_5248427del g.5226905_5227197del - - HBB_001267 - data from Globin Gene Server (HbVar-977), PubMed: Aulehla-Scholz, PubMed: Diaz-Chico - - Germline - - - - - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - - - - 1 HbVar - Belinda Giardine and Ross Hardison
+/. - c.-176_92+25del - r.spl? p.? Unknown - pathogenic g.5248135_5248427del g.5226905_5227197del 290 bp deletion - HBB_001267 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-283 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-152C>A - r.(=) p.(=) Unknown - pathogenic g.5248403G>T g.5227173G>T -102 (C>A) - HBB_004010 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-2 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-151C>G - r.(=) p.(=) Unknown - pathogenic g.5248402G>C g.5227172G>C -101 (C>G) - HBB_004009 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-4 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.-151C>T - r.(?) p.(=) Parent #1 - likely pathogenic g.5248402G>A g.5227172G>A - - HBB_001031 - - - rs63751208 Germline - - - - - DNA SEQ - - Healthy/Control - - - - - Germany Iranian - - - - 1 Andreas Laner
+/. 1 c.-151C>T - r.(=) p.(=) Unknown - pathogenic g.5248402G>A g.5227172G>A -50-101C>T - HBB_001031 - - - - Germline - - - - - DNA SEQ - - - - - Fam42686 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-151C>T - r.(=) p.(=) Unknown - pathogenic g.5248402G>A g.5227172G>A -50-101C>T - HBB_001031 - - - - Germline - - - - - DNA SEQ - - - - - Fam45213 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-151C>T - r.(=) p.(=) Unknown - pathogenic g.5248402G>A g.5227172G>A -50-101C>T - HBB_001031 - - - - Germline - - - - - DNA SEQ - - - - - Fam45213 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-151C>T - r.(=) p.(=) Unknown - pathogenic g.5248402G>A g.5227172G>A -50-101C>T - HBB_001031 - - - - Germline - - - - - DNA SEQ - - - - - Fam45213 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-151C>T - r.(=) p.(=) Unknown - pathogenic g.5248402G>A g.5227172G>A -50-101C>T - HBB_001031 - - - - Germline - - - - - DNA SEQ - - - - - Fam67296 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-151C>T - r.(=) p.(=) Unknown - pathogenic g.5248402G>A g.5227172G>A -50-101C>T - HBB_001031 - - - - Germline - - - - - DNA SEQ - - - - - Fam67296 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-151C>T - r.(=) p.(=) Unknown - pathogenic g.5248402G>A g.5227172G>A -50-101C>T - HBB_001031 - - - - Germline - - - - - DNA SEQ - - - - - Fam70453 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-151C>T - r.(=) p.(=) Unknown - pathogenic g.5248402G>A g.5227172G>A -50-101C>T - HBB_001031 - - - - Germline - - - - - DNA SEQ - - - - - Fam73100 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-151C>T - r.(=) p.(=) Unknown - pathogenic g.5248402G>A g.5227172G>A -50-101C>T - HBB_001031 - - - - Germline - - - - - DNA SEQ - - - - - Fam73365 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-151C>T - r.(=) p.(=) Unknown - pathogenic g.5248402G>A g.5227172G>A -50-101C>T - HBB_001031 - - - - Germline - - - - - DNA SEQ - - - - - Fam78601 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-151C>T - r.(=) p.(=) Unknown - pathogenic g.5248402G>A g.5227172G>A -50-101C>T - HBB_001031 - - - - Germline - - - - - DNA SEQ - - - - - Fam83816 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-151C>T - r.(=) p.(=) Unknown - pathogenic g.5248402G>A g.5227172G>A -50-101C>T - HBB_001031 - - - - Germline - - - - - DNA SEQ - - - - - Fam89013 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-151C>T - r.(=) p.(=) Unknown - pathogenic g.5248402G>A g.5227172G>A -50-101C>T - HBB_001031 - - - - Germline - - - - - DNA SEQ - - - - - Fam98368 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-151C>T - r.(=) p.(=) Unknown - pathogenic g.5248402G>A g.5227172G>A -50-101C>T - HBB_001031 - - - - Germline - - - - - DNA SEQ - - - - - Fam99780 - - (Netherlands) - - - - - 1 Kees Harteveld
+?/. _1 c.-151C>T - r.(?) p.(?) Unknown - VUS g.5248402G>A g.5227172G>A -101 (C->T) beta+ (silent) - HBB_001031 - data from Globin Gene Server (HbVar-649), OMIM:var0370, PubMed: Rund, PubMed: Baysal, PubMed: Galanello, PubMed: Ristaldi - rs63751208 Germline - - - - - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - - - - 1 HbVar - Belinda Giardine and Ross Hardison
+/. - c.-151C>T - r.(=) p.(=) Unknown - pathogenic g.5248402G>A g.5227172G>A -101 (C>T) - HBB_001031 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-3 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-148T>A - r.(=) p.(=) Unknown - VUS g.5248399A>T g.5227169A>T -98 T>A - HBB_004008 β-thalassaemia IthaNet-3059 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. _1 c.-143C>G - r.(?) p.(?) Unknown - VUS g.5248394G>C g.5227164G>C -93 C>G - HBB_001342 - data from Globin Gene Server (HbVar-2517), Giordano PC (A-9724-2010);Harteveld CL (E-4552-2010); - rs63751043 Germline - - - - - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - - - - 1 HbVar - Belinda Giardine and Ross Hardison
+/. - c.-143C>G - r.(=) p.(=) Unknown - pathogenic g.5248394G>C g.5227164G>C -93 C>G - HBB_001342 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-5 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. _1 c.-142C>T - r.(?) p.(?) Unknown - VUS g.5248393G>A g.5227163G>A -92 (C->T) beta+ (mild) - HBB_001075 - data from Globin Gene Server (HbVar-752), OMIM:var0371, PubMed: Rosatelli, PubMed: Divoky, PubMed: Kazazian - rs34883338 Germline - - - - - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - - - - 1 HbVar - Belinda Giardine and Ross Hardison
+/. - c.-142C>T - r.(=) p.(=) Unknown - pathogenic g.5248393G>A g.5227163G>A -92 (C>T) - HBB_001075 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-6 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-140C>G - r.(=) p.(=) Unknown - pathogenic g.5248391G>C g.5227161G>C -90 (C>G) - HBB_004007 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-3224 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.-140C>T - r.(=) p.(=) Unknown - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - - - DNA SEQ - - - - - Fam42806 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-140C>T - r.(=) p.(=) Unknown - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - - - DNA SEQ - - - - - Fam63712 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-140C>T - r.(=) p.(=) Unknown - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - - - DNA SEQ - - - - - Fam64530 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-140C>T - r.(=) p.(=) Unknown - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - - - DNA SEQ - - - - - Fam69943 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-140C>T - r.(=) p.(=) Unknown - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - - - DNA SEQ - - - - - Fam72027 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-140C>T - r.(=) p.(=) Unknown - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - - - DNA SEQ - - - - - Fam76300 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-140C>T - r.(=) p.(=) Unknown - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - - - DNA SEQ - - - - - Fam76300 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-140C>T - r.(=) p.(=) Unknown - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - - - DNA SEQ - - - - - Fam82137 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-140C>T - r.(=) p.(=) Unknown - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - - - DNA SEQ - - - - - Fam82137 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-140C>T - r.(=) p.(=) Unknown - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - - - DNA SEQ - - - - - Fam82137 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-140C>T - r.(=) p.(=) Unknown - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - - - DNA SEQ - - - - - Fam90808 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-140C>T - r.(=) p.(=) Unknown - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - - - DNA SEQ - - - - - Fam90814 - - (Netherlands) - - - - - 1 Kees Harteveld
+?/. _1 c.-140C>T - r.(?) p.(?) Unknown - VUS g.5248391G>A g.5227161G>A -90 (C->T) beta+ - HBB_001076 - data from Globin Gene Server (HbVar-754), OMIM:var0425, PubMed: Faustino P - rs34999973 Germline - - - - - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - - - - 1 HbVar - Belinda Giardine and Ross Hardison
+/. - c.-140C>T - r.(=) p.(=) Unknown - pathogenic g.5248391G>A g.5227161G>A -90 (C>T) - HBB_001076 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-7 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-138C>A - r.(?) p.(=) Parent #1 - VUS g.5248389G>T g.5227159G>T - - HBB_001077 - - - rs33944208 Germline - - - - - DNA SEQ - - Healthy/Control - - - - - Germany Iranian - - - - 1 Andreas Laner
+/. 1 c.-138C>A - r.(=) p.(=) Unknown - pathogenic g.5248389G>T g.5227159G>T -50-88C>A - HBB_001077 - - - - Germline - - - - - DNA SEQ - - - - - Fam45474 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-138C>A - r.(=) p.(=) Unknown - pathogenic g.5248389G>T g.5227159G>T -50-88C>A - HBB_001077 - - - - Germline - - - - - DNA SEQ - - - - - Fam64036 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-138C>A - r.(=) p.(=) Unknown - pathogenic g.5248389G>T g.5227159G>T -50-88C>A - HBB_001077 - - - - Germline - - - - - DNA SEQ - - - - - Fam64036 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-138C>A - r.(=) p.(=) Unknown - pathogenic g.5248389G>T g.5227159G>T -50-88C>A - HBB_001077 - - - - Germline - - - - - DNA SEQ - - - - - Fam64036 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-138C>A - r.(=) p.(=) Unknown - pathogenic g.5248389G>T g.5227159G>T -50-88C>A - HBB_001077 - - - - Germline - - - - - DNA SEQ - - - - - Fam80635 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-138C>A - r.(=) p.(=) Unknown - pathogenic g.5248389G>T g.5227159G>T -50-88C>A - HBB_001077 - - - - Germline - - - - - DNA SEQ - - - - - Fam85456 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-138C>A - r.(=) p.(=) Unknown - pathogenic g.5248389G>T g.5227159G>T -50-88C>A - HBB_001077 - - - - Germline - - - - - DNA SEQ - - - - - Fam85456 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-138C>A - r.(=) p.(=) Unknown - pathogenic g.5248389G>T g.5227159G>T -50-88C>A - HBB_001077 - - - - Germline - - - - - DNA SEQ - - - - - Fam88357 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-138C>A - r.(=) p.(=) Unknown - pathogenic g.5248389G>T g.5227159G>T -50-88C>A - HBB_001077 - - - - Germline - - - - - DNA SEQ - - - - - Fam100945 - - (Netherlands) - - - - - 1 Kees Harteveld
+?/. _1 c.-138C>A - r.(?) p.(?) Unknown - VUS g.5248389G>T g.5227159G>T -88 (C->A) beta+ - HBB_001077 - data from Globin Gene Server (HbVar-755), OMIM:var0373, PubMed: Rund D - rs33944208 Germline - - - - - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - - - - 1 HbVar - Belinda Giardine and Ross Hardison
+/. - c.-138C>A - r.(=) p.(=) Unknown - pathogenic g.5248389G>T g.5227159G>T -88 (C>A) - HBB_001077 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-9 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. _1 c.-138C>G - r.(?) p.(?) Unknown - VUS g.5248389G>C g.5227159G>C -88 (C>G) - HBB_001659 - data from Globin Gene Server (HbVar-2700), Old J (E-5816-2010) - rs33944208 Germline - - - - - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - - - - 1 HbVar - Belinda Giardine and Ross Hardison
+/. - c.-138C>G - r.(=) p.(=) Unknown - pathogenic g.5248389G>C g.5227159G>C -88 C>G - HBB_001659 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-2178 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.-138C>T - r.(=) p.(=) Unknown - pathogenic g.5248389G>A g.5227159G>A -50-88C>T - HBB_001078 - - - - Germline - - - - - DNA SEQ - - thalbeta - - Fam38859 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-138C>T - r.(=) p.(=) Unknown - pathogenic g.5248389G>A g.5227159G>A -50-88C>T - HBB_001078 - - - - Germline - - - - - DNA SEQ - - - - - Fam39234 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-138C>T - r.(=) p.(=) Unknown - pathogenic g.5248389G>A g.5227159G>A -50-88C>T - HBB_001078 - - - - Germline - - - - - DNA SEQ - - - - - Fam39514 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-138C>T - r.(=) p.(=) Unknown - pathogenic g.5248389G>A g.5227159G>A -50-88C>T - HBB_001078 - - - - Germline - - - - - DNA SEQ - - - - - Fam40194 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-138C>T - r.(=) p.(=) Unknown - pathogenic g.5248389G>A g.5227159G>A -50-88C>T - HBB_001078 - - - - Germline - - - - - DNA SEQ - - - - - Fam41579 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-138C>T - r.(=) p.(=) Unknown - pathogenic g.5248389G>A g.5227159G>A -50-88C>T - HBB_001078 - - - - Germline - - - - - DNA SEQ - - - - - Fam41633 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-138C>T - r.(=) p.(=) Unknown - pathogenic g.5248389G>A g.5227159G>A -50-88C>T - HBB_001078 - - - - Germline - - - - - DNA SEQ - - - - - Fam43484 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-138C>T - r.(=) p.(=) Unknown - pathogenic g.5248389G>A g.5227159G>A -50-88C>T - HBB_001078 - - - - Germline - - - - - DNA SEQ - - - - - Fam46122 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-138C>T - r.(=) p.(=) Unknown - pathogenic g.5248389G>A g.5227159G>A -50-88C>T - HBB_001078 - - - - Germline - - - - - DNA SEQ - - - - - Fam46122 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-138C>T - r.(=) p.(=) Unknown - pathogenic g.5248389G>A g.5227159G>A -50-88C>T - HBB_001078 - - - - Germline - - - - - DNA SEQ - - - - - Fam49190 - - (Netherlands) - - - - - 1 Kees Harteveld
+/. 1 c.-138C>T - r.(=) p.(=) Unknown - pathogenic g.5248389G>A g.5227159G>A -50-88C>T - HBB_001078 - - - - Germline - - - - - DNA SEQ - - - - - Fam49190 - - (Netherlands) - - - - - 1 Kees Harteveld
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