NM_000518.4(HBB):c.68A>G (p.Glu23Gly) AND HEMOGLOBIN G (TAIPEI)

Germline classification:: other (1 submission)
Last evaluated:: Dec 12, 2017
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:: RCV000016356.5

Allele description [Variation Report for NM_000518.4(HBB):c.68A>G (p.Glu23Gly)]

NM_000518.4(HBB):c.68A>G (p.Glu23Gly)

Genes:

LOC106099062:HBB recombination region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000518.4(HBB):c.68A>G (p.Glu23Gly)

Other names:

E22G

HGVS:

NC_000011.10:g.5226954T>C
NG_000007.3:g.70662A>G
NG_042296.1:g.485T>C
NG_046672.1:g.4889T>C
NG_059281.1:g.5118A>G
NM_000518.5:c.68A>GMANE SELECT
NP_000509.1:p.Glu23Gly
LRG_1232t1:c.68A>G
LRG_1232:g.5118A>G
LRG_1232p1:p.Glu23Gly
NC_000011.9:g.5248184T>C
NM_000518.4:c.68A>G
P68871:p.Glu23Gly

Protein change:

E23G; GLU22GLY

Links:

HBVAR: 265; UniProtKB: P68871#VAR_002895; OMIM: 141900.0088; dbSNP: rs33936254

NCBI 1000 Genomes Browser:

rs33936254

Molecular consequence:

NM_000518.5:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN G (TAIPEI)
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036624	OMIM	no assertion criteria provided	other (Dec 12, 2017)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 5791015, 7068436, 3623978

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036624

OMIM

no assertion criteria provided

other
(Dec 12, 2017)

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

Hemoglobin variant found in Koreans, Chinese, and North American Indians: alpha-2 beta-2 22 Glu Ala.

Blackwell RQ, Ro IH, Liu CS, Yang HJ, Wang CC, Huang JT.

Am J Phys Anthropol. 1969 May;30(3):389-91. No abstract available.

PubMed [citation]

PMID:: 5791015

Hemoglobin New York (alpha 2 beta 2 113(G15) Val leads to Glu) in China.

Zeng YT, Huang SZ.

Hemoglobin. 1982;6(1):61-7. No abstract available.

PubMed [citation]

PMID:: 7068436

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000036624.5

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

Description

See Blackwell et al. (1969), Zeng et al. (1981), and Landman et al. (1987).

#	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: Nov 24, 2024

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