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NM_000559.3(HBG1):c.227C>T (p.Thr76Ile) AND HBG1 POLYMORPHISM

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 1, 1985
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000016145.10

Allele description [Variation Report for NM_000559.3(HBG1):c.227C>T (p.Thr76Ile)]

NM_000559.3(HBG1):c.227C>T (p.Thr76Ile)

Genes:
LOC106099064:HBG1 recombination region [Gene]
HBG1:hemoglobin subunit gamma 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000559.3(HBG1):c.227C>T (p.Thr76Ile)
Other names:
I75T
HGVS:
  • NC_000011.10:g.5249456G>A
  • NG_000007.3:g.48160C>T
  • NG_042298.1:g.489G>A
  • NM_000559.3:c.227C>TMANE SELECT
  • NP_000550.2:p.Thr76Ile
  • NP_000550.2:p.Thr76Ile
  • NC_000011.9:g.5270686G>A
  • NM_000559.2:c.227C>T
Protein change:
T76I; ILE75THR
Links:
OMIM: 142200.0001; OMIM: 142200.0018; OMIM: 142200.0032; OMIM: 142200.0037; dbSNP: rs1061234
NCBI 1000 Genomes Browser:
rs1061234
Molecular consequence:
  • NM_000559.3:c.227C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HBG1 POLYMORPHISM
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036413OMIM
no assertion criteria provided
Benign
(Jan 1, 1985)
germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Schroeder, W. A., Huisman, T. H. J. Human gamma chains: structural features. In: Stamatoyannopoulos, G., Nienhuis, A. W. Cellular and Molecular Regulation of Hemoglobin Switching. New York: Grune and Stratton (pub.) 28-45, 1979.

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine replaced by threonine at position 75 )E 19) of the gamma chain.

Ricco G, Mazza U, Turi RM, Pich PG, Camaschella C, Saglio G, Bernini LF.

Hum Genet. 1976 Jun 29;32(3):305-13.

PubMed [citation]
PMID:
939551

Quantitation of three types of gamma chain of HbF by high pressure liquid chromatography; application of this method to the HbF of patients with sickle cell anemia or the S-HPFH condition.

Huisman TH, Altay C, Webber B, Reese AL, Gravely ME, Okonjo K, Wilson JB.

Blood. 1981 Jan;57(1):75-82.

PubMed [citation]
PMID:
6160889
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000036413.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

In the course of studies of the chemical structure of hemoglobin F in thalassemia, Ricco et al. (1976) found a new fetal hemoglobin in which isoleucine at position 75 was replaced by threonine. It was present in 29 of 32 homozygotes in amounts varying from traces to 40% of all Hb F. It was also found in 40% of normal newborns and premature infants, in a 14-week-old fetus, and in 1 of 3 patients with aplastic anemia and elevated Hb F. The authors concluded that the synthesis of this gamma chain is controlled by a separate locus. The T75 gamma chain was thought to have glycine at position 136. However, Schroeder and Huisman (1979) stated that the T-gamma chain has alanine in position 136. Huisman et al. (1981) further described this polymorphism of the A-gamma chain: A-gamma-I with isoleucine and A-gamma-T with threonine at position 75. From study of many different populations, Huisman et al. (1985) presented data on the frequency of the A-gamma gene that has substitution of threonine for isoleucine at position 75. The frequency varied from zero in 20 Georgia blacks with CC disease to 24% in AA persons in Italy.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024