NM_000518.4(HBB):c.98T>C (p.Leu33Pro) AND HEMOGLOBIN ABRAHAM LINCOLN

This record was updated by the submitter. Please see the current version.

Germline classification:: other (1 submission)
Last evaluated:: Jul 20, 2016
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:: RCV000016547.2

Allele description

NM_000518.4(HBB):c.98T>C (p.Leu33Pro)

Gene:

HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000518.4(HBB):c.98T>C (p.Leu33Pro)

Other names:

Hb Abraham Lincoln; Hb Kobe

HGVS:

NC_000011.10:g.5226794A>G
NG_000007.3:g.70822T>C
NM_000518.4:c.98T>C
NP_000509.1:p.Leu33Pro
NC_000011.9:g.5248024A>G

Protein change:

L32P; LEU32PRO

Links:

HBVAR: 293; OMIM: 141900.0218; dbSNP: rs33948578

NCBI 1000 Genomes Browser:

rs33948578

Molecular consequence:

NM_000518.4:c.98T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN ABRAHAM LINCOLN
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036815	OMIM	no assertion criteria provided	other (Jul 20, 2016)	germline	literature only	PubMed (4) [See all records that cite these PMIDs] 4127713, 4352462, 6153383, 6998928

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036815

OMIM

no assertion criteria provided

other
(Jul 20, 2016)

germline

literature only

PubMed (4)
[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

Haemoglobin Perth: beta-32 (B14) Leu leads to Pro, an unstable haemoglobin causing haemolysis.

Jackson JM, Yates A, Huehns ER.

Br J Haematol. 1973 Nov;25(5):607-10. No abstract available.

PubMed [citation]

PMID:: 4127713

Hemoglobin Abraham Lincoln, beta32 (B14) leucine leads to proline. An unstable variant producing severe hemolytic disease.

Honig GR, Green D, Shamsuddin M, Vida LN, Mason RG, Gnarra DJ, Maurer HS.

J Clin Invest. 1973 Jul;52(7):1746-55.

PubMed [citation]

PMID:: 4352462
PMCID:: PMC302450

See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000036815.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (4)

Description

This is an unstable hemoglobin resulting in hemolytic anemia. See Jackson et al. (1973), Honig et al. (1973), Rousseaux et al. (1980), and Shibata 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: Dec 15, 2017

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