NM_000558.3(HBA1):c.226G>C (p.Asp76His) AND HEMOGLOBIN Q (IRAN)

Germline classification:: other (1 submission)
Last evaluated:: May 10, 2018
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:: RCV000017145.4

Allele description [Variation Report for NM_000558.3(HBA1):c.226G>C (p.Asp76His)]

NM_000558.3(HBA1):c.226G>C (p.Asp76His)

Genes:

LOC106804613:hemoglobin subunit alpha 1 recombination region [Gene]
HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000558.3(HBA1):c.226G>C (p.Asp76His)

Other names:

D75H

HGVS:

NC_000016.10:g.177059G>C
NG_000006.1:g.37922G>C
NG_046166.1:g.2542G>C
NG_059186.1:g.5409G>C
NM_000558.5:c.226G>CMANE SELECT
NP_000549.1:p.Asp76His
LRG_1225t1:c.226G>C
LRG_1225:g.5409G>C
LRG_1225p1:p.Asp76His
NC_000016.9:g.227058G>C
P69905:p.Asp76His

Protein change:

D76H; ASP75HIS

Links:

HBVAR: 111; UniProtKB: P69905#VAR_002795; OMIM: 141800.0122; dbSNP: rs33977363

NCBI 1000 Genomes Browser:

rs33977363

Molecular consequence:

NM_000558.5:c.226G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN Q (IRAN)
Identifiers:

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ATP-citrate synthase isoform 2 [Homo sapiens]
ATP-citrate synthase isoform 2 [Homo sapiens]
gi|38569423|ref|NP_942127.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037417	OMIM	no assertion criteria provided	other (May 10, 2018)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 5460202, 508945, 7448125

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037417

OMIM

no assertion criteria provided

other
(May 10, 2018)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Two haemoglobins Q, alpha-74 (EF3) and alpha-75 (EF4) aspartic acid to histidine.

Lorkin PA, Charlesworth D, Lehmann H, Rahbar S, Tuchinda S, Eng LI.

Br J Haematol. 1970 Jul;19(1):117-25. No abstract available.

PubMed [citation]

PMID:: 5460202

The alpha-globin gene adjacent to the gene for HbQ-alpha 74 Asp replaced by His is deleted, but not that adjacent to the gene for HbG-alpha 30 Glu replaced by Gln; three-fourths of the alpha-globin genes are deleted in HbQ-alpha-thalassemia.

Lie-Injo LE, Dozy AM, Kan YW, Lopes M, Todd D.

Blood. 1979 Dec;54(6):1407-16.

PubMed [citation]

PMID:: 508945

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000037417.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

See Lorkin et al. (1970), Lie-Injo et al. (1979), and Higgs et al. (1980).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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