NM_000517.6(HBA2):c.235A>C (p.Asn79His) AND HEMOGLOBIN DAVENPORT

Germline classification:: other (1 submission)
Last evaluated:: Mar 28, 2013
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:: RCV000016928.1

Allele description [Variation Report for NM_000517.6(HBA2):c.235A>C (p.Asn79His)]

NM_000517.6(HBA2):c.235A>C (p.Asn79His)

Genes:

LOC106804612:hemoglobin subunit alpha 2 recombination region [Gene]
HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000517.6(HBA2):c.235A>C (p.Asn79His)

Other names:

N78H

HGVS:

NC_000016.10:g.173264A>C
NG_000006.1:g.34127A>C
NG_046165.1:g.3003A>C
NG_059186.1:g.1614A>C
NG_059271.1:g.5418A>C
NM_000517.6:c.235A>CMANE SELECT
NP_000508.1:p.Asn79His
LRG_1240t1:c.235A>C
LRG_1225:g.1614A>C
LRG_1240:g.5418A>C
LRG_1240p1:p.Asn79His
NC_000016.9:g.223263A>C
P69905:p.Asn79His

Protein change:

N79H; ASN78HIS

Links:

UniProtKB: P69905#VAR_002799; OMIM: 141850.0019; dbSNP: rs111033602

NCBI 1000 Genomes Browser:

rs111033602

Molecular consequence:

NM_000517.6:c.235A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN DAVENPORT
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037199	OMIM	no assertion criteria provided	other (Mar 28, 2013)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037199

OMIM

no assertion criteria provided

other
(Mar 28, 2013)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

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

Hb Davenport or alpha 2(78)(EF7)Asn----His beta 2.

Wilson JB, Webber BB, Plaseska D, de Alarcon PA, McMillan SK, Huisman TH.

Hemoglobin. 1990;14(6):599-605.

PubMed [citation]

PMID:: 2101836

Details of each submission

From OMIM, SCV000037199.1

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

Description

Wilson et al. (1990) found a new, stable alpha-chain variant in 2 members of a Caucasian family living in Iowa. Hematologic data were within normal limits. The hemoglobin moved between Hb A and Hb F in isoelectric focusing (IEF) and eluted slightly faster than Hb A2 in cation exchange HPLC. The family was of German descent. Replacement of asparagine by histidine at position 78 was identified.

#	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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