NM_000518.4(HBB):c.62T>A (p.Val21Glu) AND HEMOGLOBIN TROLLHAETTAN

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:: RCV000016805.2

Allele description

NM_000518.4(HBB):c.62T>A (p.Val21Glu)

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.62T>A (p.Val21Glu)

Other names:

Hb Trollhättan

HGVS:

NC_000011.10:g.5226960A>T
NG_000007.3:g.70656T>A
NM_000518.4:c.62T>A
NP_000509.1:p.Val21Glu
NC_000011.9:g.5248190A>T

Protein change:

V20E; VAL20GLU

Links:

OMIM: 141900.0450; dbSNP: rs33918474

NCBI 1000 Genomes Browser:

rs33918474

Molecular consequence:

NM_000518.4:c.62T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN TROLLHAETTAN
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037075	OMIM	no assertion criteria provided	other (Jul 20, 2016)	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

SCV000037075

OMIM

no assertion criteria provided

other
(Jul 20, 2016)

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 Trollhättan [beta 20(B2)Val-->Glu]--a new haemoglobin variant with increased oxygen affinity causing erythrocytosis.

Landin B, Berglund S, Lindoff B.

Eur J Haematol. 1994 Jul;53(1):21-5.

PubMed [citation]

PMID:: 7914875

Details of each submission

From OMIM, SCV000037075.2

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

Description

Landin et al. (1994) added another example to the more than 40 hemoglobin variants with increased oxygen affinity associated with erythrocytosis. In 3 generations of the family of a 23-year-old male from Trollhaettan in Sweden, Landin et al. (1994) observed heterozygosity for a GTG-to-GAG transition at codon 20 that predicted a val-to-glu substitution, which was confirmed at the protein level. The mutation occurred in the same codon as hemoglobin Olympia (141900.0210), which shows a val20-to-met amino acid substitution.

#	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 6, 2016

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