NM_000518.5(HBB):c.280_294del (p.Cys94_His98del) AND HEMOGLOBIN GUN HILL

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:: RCV000016365.4

Allele description [Variation Report for NM_000518.5(HBB):c.280_294del (p.Cys94_His98del)]

NM_000518.5(HBB):c.280_294del (p.Cys94_His98del)

Genes:

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

Variant type:

Deletion

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000518.5(HBB):c.280_294del (p.Cys94_His98del)

HGVS:

NC_000011.10:g.5226606_5226620del
NG_000007.3:g.71004_71018del
NG_042296.1:g.137_151del
NG_046672.1:g.4541_4555del
NG_053049.1:g.2927_2941del
NG_059281.1:g.5460_5474del
NM_000518.5:c.280_294delMANE SELECT
NP_000509.1:p.Cys94_His98del
LRG_1232t1:c.280_294del
LRG_1232:g.5460_5474del
LRG_1232p1:p.Cys94_His98del
NC_000011.9:g.5247836_5247850del

Links:

OMIM: 141900.0095; dbSNP: rs34210688

NCBI 1000 Genomes Browser:

rs34210688

Molecular consequence:

NM_000518.5:c.280_294del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: HEMOGLOBIN GUN HILL
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036633	OMIM	no assertion criteria provided	other (Dec 12, 2017)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 7382247, 5675976

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036633

OMIM

no assertion criteria provided

other
(Dec 12, 2017)

germline

literature only

PubMed (2)
[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

Possible gonadal mosaicism in a family with hemoglobin Köln.

Bradley TB, Wohl RC, Petz LD, Perkins HA, Reynolds RD.

Johns Hopkins Med J. 1980 Jun;146(6):236-40.

PubMed [citation]

PMID:: 7382247

Hemoglobin Gun Hill: an unstable protein associated with chronic hemolysis.

Rieder RF, Bradley TB Jr.

Blood. 1968 Sep;32(3):355-69. No abstract available.

PubMed [citation]

PMID:: 5675976

Details of each submission

From OMIM, SCV000036633.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Deletion of amino acid residues 93-97 inclusive of beta chain probably through unequal crossing over. This unstable hemoglobin also has absence of half of the normal complement of heme. Other unstable hemoglobins include Hb Zurich, Hb Koln, Hb Geneva, Hb Sydney, Hb Hammersmith and Hb Sinai. (It is possible that the deletion is 91-95 or 92-96 rather than 93-97.) See Bradley et al. (1967) and Rieder and Bradley (1968). See Hb Koriyama (141900.0152).

#	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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