NM_000518.4(HBB):c.431A>G (p.His144Arg) AND HEMOGLOBIN ABRUZZO

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:: RCV000016243.2

Allele description

NM_000518.4(HBB):c.431A>G (p.His144Arg)

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.431A>G (p.His144Arg)

HGVS:

NC_000011.10:g.5225611T>C
NG_000007.3:g.72005A>G
NM_000518.4:c.431A>G
NP_000509.1:p.His144Arg
NC_000011.9:g.5246841T>C
P68871:p.His144Arg

Protein change:

H143R; HIS143ARG

Links:

UniProtKB: P68871#VAR_003088; OMIM: 141900.0002; dbSNP: rs33918338

NCBI 1000 Genomes Browser:

rs33918338

Molecular consequence:

NM_000518.4:c.431A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN ABRUZZO
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036511	OMIM	no assertion criteria provided	other (Jul 20, 2016)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 5031790, 2283301 Chiancone, E., Norne, J. E., Bonaventura, J., Bonaventura, C., Forsen, S. Nuclear magnetic resonance quadrupole relaxation study of chloride binding to hemoglobin Abruzzo (beta 143 his-to-arg). Biochim. Biophys. Acta 336: 403-406, 1974.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036511

OMIM

no assertion criteria provided

other
(Jul 20, 2016)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Chiancone, E., Norne, J. E., Bonaventura, J., Bonaventura, C., Forsen, S. Nuclear magnetic resonance quadrupole relaxation study of chloride binding to hemoglobin Abruzzo (beta 143 his-to-arg). Biochim. Biophys. Acta 336: 403-406, 1974.

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 Abruzzo: beta 143 (H 21) His leads to Arg.

Tentori L, Carta SORCINI M, Buccella C.

Clin Chim Acta. 1972 Apr;38(1):258-62. No abstract available.

PubMed [citation]

PMID:: 5031790

Hb Camperdown or alpha 2 beta 2(104)(G6)Arg----Ser in two Italian males.

Zhao W, Wilson JB, Huisman TH, Sciarratta GV, Ivaldi G, Petrini C, Ripamonti M.

Hemoglobin. 1990;14(4):459-61. No abstract available.

PubMed [citation]

PMID:: 2283301

Details of each submission

From OMIM, SCV000036511.2

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

Description

See Tentori et al. (1972), Chiancone et al. (1974), and Zhao et al. (1990).

#	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

ClinVar

Relating variation to medicine