NM_000558.5(HBA1):c.173G>A (p.Gly58Asp) AND HEMOGLOBIN J (NORFOLK)

Germline classification:: other (1 submission)
Last evaluated:: Mar 10, 1984
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:: RCV000017122.6

Allele description [Variation Report for NM_000558.5(HBA1):c.173G>A (p.Gly58Asp)]

NM_000558.5(HBA1):c.173G>A (p.Gly58Asp)

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_000558.5(HBA1):c.173G>A (p.Gly58Asp)

Other names:

G57D

HGVS:

NC_000016.10:g.177006G>A
NG_000006.1:g.37869G>A
NG_046166.1:g.2489G>A
NG_059186.1:g.5356G>A
NM_000558.5:c.173G>AMANE SELECT
NP_000549.1:p.Gly58Asp
LRG_1225t1:c.173G>A
LRG_1225:g.5356G>A
LRG_1225p1:p.Gly58Asp
NC_000016.9:g.227005G>A

Protein change:

G58D; GLY57ASP

Links:

OMIM: 141800.0107; dbSNP: rs36062788

NCBI 1000 Genomes Browser:

rs36062788

Molecular consequence:

NM_000558.5:c.173G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN J (NORFOLK)
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037394	OMIM	no assertion criteria provided	other (Mar 10, 1984)	germline	literature only	PubMed (5) [See all records that cite these PMIDs] 13436817, 13968953, 13955802, 5927878, 6199634 Hanada, M., Ohta, Y., Imamura, T., Fejimura, T., Kawasaki, K., Kosaka, K., Yamaoka, K., Seita, M. Studies of abnormal hemoglobins in western Japan. (Abstract) Jpn. J. Hum. Genet. 9: 253-254, 1964.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037394

OMIM

no assertion criteria provided

other
(Mar 10, 1984)

germline

literature only

PubMed (5)
[See all records that cite these PMIDs]

Hanada, M., Ohta, Y., Imamura, T., Fejimura, T., Kawasaki, K., Kosaka, K., Yamaoka, K., Seita, M. Studies of abnormal hemoglobins in western Japan. (Abstract) Jpn. J. Hum. Genet. 9: 253-254, 1964.

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

Haemoglobin K in an East Indian and his family.

AGER JA, LEHMANN H.

Br Med J. 1957 Jun 22;1(5033):1449-50. No abstract available.

PubMed [citation]

PMID:: 13436817
PMCID:: PMC1973432

Chemical heterogeneity of haemoglobin O.

BAGLIONI C, LEHMANN H.

Nature. 1962 Oct 20;196:229-32. No abstract available.

PubMed [citation]

PMID:: 13968953

See all PubMed Citations (5)

Details of each submission

From OMIM, SCV000037394.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (5)

Description

Fast hemoglobin. See Ager et al. (1958), Baglioni (1962), Huntsman et al. (1963), Hanada et al. (1964), Imamura (1966), and Lehmann and Carrell (1969).

#	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: Jun 9, 2024

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