The HBB c.410G>A (p.Gly137Asp) variant has been reported in the published literature in heterozygous individuals appearing normal without clinical or hematological abnormalities, including those also carrying Hb E and Hb C (PMIDs: 14282052 (1965), 1634366 (1992), 23297836 (2013), and 25244406 (2014)). However, some compound heterozygous patients that carry either Hb S or Hb Grady present with mild hemolytic anemia (PMID: 6500990 (1984) and 26351951 (2016)). This variant has also been seen in patients affected with deletional alpha thalassemia intermedia (PMID: 22145566 (2012)). Functional studies indicate that this variant is mildly unstable, has decreased oxygen affinity, and diminished cooperativity (PMID: 932531 (1976)). The frequency of this variant in the general population, 0.00018 (3/16256 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant.
ClinVar Genomic variation as it relates to human health
NM_000518.4(HBB):c.410G>A (p.Gly137Asp)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(8)
Help
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Conflicting classifications of pathogenicity
Uncertain significance(2); Benign(1); Likely benign(3)
Uncertain significance(2); Benign(1); Likely benign(3)
8
criteria provided, conflicting classifications
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000518.4(HBB):c.410G>A (p.Gly137Asp)
Variation ID: 15202 Accession: VCV000015202.26
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 11p15.4 11: 5225632 (GRCh38) [ NCBI UCSC ] 11: 5246862 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 4, 2013 May 1, 2024 Jul 25, 2023 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000518.5:c.410G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000509.1:p.Gly137Asp missense NC_000011.10:g.5225632C>T NC_000011.9:g.5246862C>T NG_000007.3:g.71984G>A NG_046672.1:g.3567C>T NG_053049.1:g.1953C>T NG_059281.1:g.6440G>A LRG_1232:g.6440G>A LRG_1232t1:c.410G>A LRG_1232p1:p.Gly137Asp P68871:p.Gly137Asp - Protein change
- G137D
- Other names
-
G136D
Hb Hope
- Canonical SPDI
- NC_000011.10:5225631:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
The Genome Aggregation Database (gnomAD) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| HBB | - | - |
GRCh38 GRCh37 |
22 | 1834 | |
| LOC107133510 | - | - | - | GRCh38 | - | 1784 |
| LOC110006319 | - | - | - | GRCh38 | - | 984 |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Likely benign (2) |
criteria provided, single submitter
|
Aug 26, 2022 | RCV000016385.21 | |
| Benign (1) |
criteria provided, single submitter
|
May 28, 2019 | RCV000029996.11 | |
| no classifications from unflagged records (1) |
no classifications from unflagged records
|
Oct 19, 2023 | RCV001004558.10 | |
| Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
|
Jul 25, 2023 | RCV001284489.21 | |
| Uncertain significance (1) |
criteria provided, single submitter
|
- | RCV002290955.9 | |
| Likely benign (1) |
criteria provided, single submitter
|
Aug 8, 2017 | RCV002321485.9 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Uncertain significance
(-)
|
criteria provided, single submitter
Method: clinical testing
|
Beta-thalassemia HBB/LCRB
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV002583272.2
First in ClinVar: Oct 15, 2022 Last updated: Mar 18, 2023 |
|
|
|
Uncertain significance
(Jul 25, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001470316.3
First in ClinVar: Jan 26, 2021 Last updated: Jan 06, 2024 |
Comment:
The HBB c.410G>A (p.Gly137Asp) variant has been reported in the published literature in heterozygous individuals appearing normal without clinical or hematological abnormalities, including those also … (more)
The HBB c.410G>A (p.Gly137Asp) variant has been reported in the published literature in heterozygous individuals appearing normal without clinical or hematological abnormalities, including those also carrying Hb E and Hb C (PMIDs: 14282052 (1965), 1634366 (1992), 23297836 (2013), and 25244406 (2014)). However, some compound heterozygous patients that carry either Hb S or Hb Grady present with mild hemolytic anemia (PMID: 6500990 (1984) and 26351951 (2016)). This variant has also been seen in patients affected with deletional alpha thalassemia intermedia (PMID: 22145566 (2012)). Functional studies indicate that this variant is mildly unstable, has decreased oxygen affinity, and diminished cooperativity (PMID: 932531 (1976)). The frequency of this variant in the general population, 0.00018 (3/16256 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant. (less)
|
|
|
Likely benign
(Apr 24, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000603900.8
First in ClinVar: Mar 02, 2017 Last updated: Feb 20, 2024 |
|
|
|
Benign
(May 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Beta-thalassemia HBB/LCRB
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV001138214.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
|
|
|
Likely benign
(Aug 26, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697131.4
First in ClinVar: Mar 17, 2018 Last updated: Sep 17, 2022 |
Comment:
Variant summary: HBB c.410G>A (p.Gly137Asp) results in a non-conservative amino acid change located in the globin domain (IPR000971) of the encoded protein sequence. Four of … (more)
Variant summary: HBB c.410G>A (p.Gly137Asp) results in a non-conservative amino acid change located in the globin domain (IPR000971) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 251372 control chromosomes (gnomAD). c.410G>A has been reported in the literature as a clinically innocuous variant in individuals with mildly anemic phenotypes and also in co-occurrence among individuals with HbCS, Hb-H disease, and HbE/beta-thalassemia (e.g. Minnich_1965, Ingle_2004, Enoki_1989, Martinez_1984, Pagnier_1978, Sura_2007, Beneitez_2006, Fucharoen_2012, Svasti_2001, Chunpanich_2004, Rahbar_1992, Pillers_1992, Delacour_2016, Srivorakun_2014, Singha_2021). In particular, compound heterozygous individuals with Hb-Hope-HbS genotypes did not present with sickle cell disease phenotype (e.g. Ingle_2004). These data indicate that the variant is not strongly associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function (e.g. Enoki_1989). The most pronounced variant effect results in reduced oxygen affinity. Three clinical diagnostic laboratories and OMIM have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Most classified the variant as benign/likely benign, and one laboratory classified it as VUS. Based on the evidence outlined above, the variant was classified as likely benign. (less)
|
|
|
Likely benign
(Aug 08, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002628022.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more)
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
|
|
|
Benign
(Dec 12, 2017)
|
no assertion criteria provided
Method: literature only
|
HEMOGLOBIN HOPE
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000036653.5
First in ClinVar: Apr 04, 2013 Last updated: May 03, 2018 |
Comment on evidence:
See Minnich et al. (1965), Steinberg et al. (1974, 1976), Charache et al. (1979), Harano et al. (1983), Martinez and Colombo (1984), and Enoki et … (more)
See Minnich et al. (1965), Steinberg et al. (1974, 1976), Charache et al. (1979), Harano et al. (1983), Martinez and Colombo (1984), and Enoki et al. (1989). In a Thai Mien family, Pillers et al. (1992) observed Hb Hope in compound heterozygous state with Hb E. Previous reports of Hb Hope had involved predominantly black Americans, blacks who lived in Cuba, or natives of Mali who lived in France. Ingle et al. (2004) analyzed interactions of Hb Hope with Hb S (141900.0243), other variant hemoglobins, and thalassemia. (less)
|
|
|
Pathogenic
(-)
|
Flagged submission
flagged submission
Method: clinical testing
Reason: New submission from submitter that appears to have been intended to update this older submission
Source: ClinGen
|
Hb SS disease
Affected status: unknown
Allele origin:
germline
|
Baylor Genetics
Accession: SCV001163640.1
First in ClinVar: Feb 29, 2020 Last updated: Feb 29, 2020 |
|
|
| Flagged submissions do not contribute to the aggregate classification or review status for the variant. Learn more | |||||
Comment:
Comment:
Variant summary: HBB c.410G>A (p.Gly137Asp) results in a non-conservative amino acid change located in the globin domain (IPR000971) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 251372 control chromosomes (gnomAD). c.410G>A has been reported in the literature as a clinically innocuous variant in individuals with mildly anemic phenotypes and also in co-occurrence among individuals with HbCS, Hb-H disease, and HbE/beta-thalassemia (e.g. Minnich_1965, Ingle_2004, Enoki_1989, Martinez_1984, Pagnier_1978, Sura_2007, Beneitez_2006, Fucharoen_2012, Svasti_2001, Chunpanich_2004, Rahbar_1992, Pillers_1992, Delacour_2016, Srivorakun_2014, Singha_2021). In particular, compound heterozygous individuals with Hb-Hope-HbS genotypes did not present with sickle cell disease phenotype (e.g. Ingle_2004). These data indicate that the variant is not strongly associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function (e.g. Enoki_1989). The most pronounced variant effect results in reduced oxygen affinity. Three clinical diagnostic laboratories and OMIM have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Most classified the variant as benign/likely benign, and one laboratory classified it as VUS. Based on the evidence outlined above, the variant was classified as likely benign.
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
The HBB c.410G>A (p.Gly137Asp) variant has been reported in the published literature in heterozygous individuals appearing normal without clinical or hematological abnormalities, including those also carrying Hb E and Hb C (PMIDs: 14282052 (1965), 1634366 (1992), 23297836 (2013), and 25244406 (2014)). However, some compound heterozygous patients that carry either Hb S or Hb Grady present with mild hemolytic anemia (PMID: 6500990 (1984) and 26351951 (2016)). This variant has also been seen in patients affected with deletional alpha thalassemia intermedia (PMID: 22145566 (2012)). Functional studies indicate that this variant is mildly unstable, has decreased oxygen affinity, and diminished cooperativity (PMID: 932531 (1976)). The frequency of this variant in the general population, 0.00018 (3/16256 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant.
Comment:
Variant summary: HBB c.410G>A (p.Gly137Asp) results in a non-conservative amino acid change located in the globin domain (IPR000971) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 251372 control chromosomes (gnomAD). c.410G>A has been reported in the literature as a clinically innocuous variant in individuals with mildly anemic phenotypes and also in co-occurrence among individuals with HbCS, Hb-H disease, and HbE/beta-thalassemia (e.g. Minnich_1965, Ingle_2004, Enoki_1989, Martinez_1984, Pagnier_1978, Sura_2007, Beneitez_2006, Fucharoen_2012, Svasti_2001, Chunpanich_2004, Rahbar_1992, Pillers_1992, Delacour_2016, Srivorakun_2014, Singha_2021). In particular, compound heterozygous individuals with Hb-Hope-HbS genotypes did not present with sickle cell disease phenotype (e.g. Ingle_2004). These data indicate that the variant is not strongly associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function (e.g. Enoki_1989). The most pronounced variant effect results in reduced oxygen affinity. Three clinical diagnostic laboratories and OMIM have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Most classified the variant as benign/likely benign, and one laboratory classified it as VUS. Based on the evidence outlined above, the variant was classified as likely benign.
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Spectrum of HBB gene mutations among 696 β-thalassemia patients and carriers in Southern Vietnam. | Xinh PT | Molecular biology reports | 2022 | PMID: 35023007 |
| Hb Athens-Georgia (beta 40(C6) Arg > Lys, HBB:c.122G > A) with a single α-globin gene (Hb H disease) in a Thai family: molecular, hematological, and diagnostic aspects. | Panyasai S | Scandinavian journal of clinical and laboratory investigation | 2021 | PMID: 33287582 |
| β-Hemoglobinopathies in the Lao People's Democratic Republic: Molecular diagnostics and implication for a prevention and control program. | Singha K | International journal of laboratory hematology | 2021 | PMID: 33244864 |
| Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis. | Scheps KG | Human mutation | 2020 | PMID: 31553106 |
| Molecular characteristics of thalassemia and hemoglobin variants in prenatal diagnosis program in northern Thailand. | Mankhemthong K | International journal of hematology | 2019 | PMID: 31240559 |
| Molecular epidemiology, pathogenicity, and structural analysis of haemoglobin variants in the Yunnan province population of Southwestern China. | Zhang J | Scientific reports | 2019 | PMID: 31164695 |
| Compound Heterozygote for a Novel Elongated C-Terminal β-Globin Variant (HBB: c.364delG) and Hb E (HBB: c.79G>A) with Heterozygous α-Thalassemia-2. | Nuinoon M | Hemoglobin | 2019 | PMID: 31106603 |
| Molecular Characteristics of Hb New York [β113(G15)Val→Glu, HBB: c.341T>A] in Thailand. | Chaibunruang A | Hemoglobin | 2018 | PMID: 29464999 |
| Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China. | He J | Genetics in medicine : official journal of the American College of Medical Genetics | 2017 | PMID: 28125089 |
| Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey. | Canatan D | Hemoglobin | 2016 | PMID: 27207683 |
| Characterization of the HBB: c.*233G > C Variant: No Evidence of a β-Thalassemic Phenotype. | Smith DL | Hemoglobin | 2016 | PMID: 26524961 |
| Hb Hope [β136Gly→Asp] and Hb Grady [α119_120insGluPheThr] compound heterozygosity in a Mauritanian patient. | Delacour H | Clinical chemistry and laboratory medicine | 2016 | PMID: 26351951 |
| Improvements in phenotype studies of hemoglobin disorders brought by advances in reversed-phase chromatography of globin chains. | Riou J | International journal of laboratory hematology | 2015 | PMID: 25130136 |
| A large cohort of hemoglobin variants in Thailand: molecular epidemiological study and diagnostic consideration. | Srivorakun H | PloS one | 2014 | PMID: 25244406 |
| The clinical and laboratory spectrum of Hb C [β6(A3)Glu→Lys, GAG>AAG] disease. | Cook CM | Hemoglobin | 2013 | PMID: 23297836 |
| Hb H disease with various β hemoglobinopathies: molecular, hematological and diagnostic aspects. | Fucharoen S | Hemoglobin | 2012 | PMID: 22145566 |
| Impact of single nucleotide polymorphisms in HBB gene causing haemoglobinopathies: in silico analysis. | George Priya Doss C | New biotechnology | 2009 | PMID: 19429541 |
| Haemoglobin Hope in a northern Thai family: first identification of homozygous haemoglobin Hope associated with haemoglobin H disease. | Sura T | European journal of haematology | 2007 | PMID: 17655700 |
| Heterozygous Hb Hope [beta136(H14)Gly --> Asp] in association with heterozygous beta0-thalassemia with apparent homozygous expression, in a Spanish patient. | Beneitez D | Hemoglobin | 2006 | PMID: 16540415 |
| Molecular and hematological characterization of hemoglobin Hope/hemoglobin E and hemoglobin Hope/alpha-thalassemia 2 in Thai patients. | Chunpanich S | Laboratory hematology : official publication of the International Society for Laboratory Hematology | 2004 | PMID: 15697092 |
| Hb Hope [beta136(H14)Gly-->Asp (GGT-->GAT)]: interactions with Hb S [beta6(A3)Glu-->Val (GAG-->GTG)], other variant hemoglobins and thalassemia. | Ingle J | Hemoglobin | 2004 | PMID: 15658184 |
| Double heterozygosity for Hb Pyrgos [beta83(EF7)Gly-->Asp] and Hb E [beta26(B8)Glu-->Lys] found in association with alpha-thalassemia. | Sawangareetrakul P | Hemoglobin | 2002 | PMID: 12144064 |
| Association of Hb Hope [beta136(H14)Gly-->Asp] and Hb H disease. | Svasti S | Hemoglobin | 2001 | PMID: 11791878 |
| Hb Hope [beta 136(H14) Gly----Asp] and Hb E [beta 26(B8)Glu----Lys]: compound heterozygosity in a Thai Mien family. | Pillers DA | Hemoglobin | 1992 | PMID: 1634366 |
| Association of Hb Hope [beta 136(H14)Gly----Asp] and alpha-thalassemia-2 (3.7 Kb deletion) causing severe microcytic anemia. | Rahbar S | Hemoglobin | 1992 | PMID: 1428947 |
| [Structural analysis of abnormal hemoglobin by the polymerase chain reaction (PCR) of genomic DNA]. | Harano T | Rinsho byori. The Japanese journal of clinical pathology | 1990 | PMID: 2232267 |
| Hb Hope, beta 136(H14)Gly----Asp, in a diabetic Japanese female and its functional characterization. | Enoki Y | Hemoglobin | 1989 | PMID: 2703363 |
| Hemoglobin Mississippi (beta 44ser----cys). Studies of the thalassemic phenotype in a mixed heterozygote with beta +-thalassemia. | Steinberg MH | The Journal of clinical investigation | 1987 | PMID: 2434529 |
| Interaction between Hb S and Hb Hope in a Cuban family. | Martínez G | Hemoglobin | 1984 | PMID: 6500990 |
| Hemoglobin Okayama [beta 2 (NA 2) His replaced by Gln]: a new 'silent' hemoglobin variant with substituted amino acid residue at the 2,3-diphosphoglycerate binding site. | Harano T | FEBS letters | 1983 | PMID: 6852251 |
| Oxygen transport in a woman with hemoglobin Hope/beta+ thalassemia. | Charache S | The Journal of laboratory and clinical medicine | 1979 | PMID: 429843 |
| Association of Hb Hope with beta (0) thalassemia. | Pagnier J | Hemoglobin | 1978 | PMID: 721614 |
| Hemoglobin Hope: studies of oxygen equilibrium in heterozygotes, hemoglobin S-Hope disease, and isolated hemoglobin Hope. | Steinberg MH | The Journal of laboratory and clinical medicine | 1976 | PMID: 932531 |
| Hb Camden and Hb Hope found during routine testing. | Hubbard M | Acta haematologica | 1975 | PMID: 808079 |
| HEMOGLOBIN HOPE: A BETA CHAIN VARIANT. | MINNICHI V | Blood | 1965 | PMID: 14282052 |
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Text-mined citations for rs33949486 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Nov 03, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.