NM_000558.5(HBA1):c.338A>G (p.His113Arg) AND HEMOGLOBIN STRUMICA

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:: RCV000017161.3

Allele description [Variation Report for NM_000558.5(HBA1):c.338A>G (p.His113Arg)]

NM_000558.5(HBA1):c.338A>G (p.His113Arg)

Genes:

LOC106804613:hemoglobin subunit alpha 1 recombination region [Gene]
HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000558.5(HBA1):c.338A>G (p.His113Arg)

Other names:

H112R

HGVS:

NC_000016.10:g.177320A>G
NG_000006.1:g.38183A>G
NG_046166.1:g.2803A>G
NG_059186.1:g.5670A>G
NM_000558.5:c.338A>GMANE SELECT
NP_000549.1:p.His113Arg
LRG_1225t1:c.338A>G
LRG_1225:g.5670A>G
LRG_1225p1:p.His113Arg
NC_000016.9:g.227319A>G

Protein change:

H113R; HIS112ARG

Links:

OMIM: 141800.0140; dbSNP: rs34713708

NCBI 1000 Genomes Browser:

rs34713708

Molecular consequence:

NM_000558.5:c.338A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN STRUMICA
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037433	OMIM	no assertion criteria provided	other (Jul 20, 2016)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 1191675, 1225585

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037433

OMIM

no assertion criteria provided

other
(Jul 20, 2016)

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

Hemoglobin-Strumica or alpha 2 112(G19) His replaced by Arg beta 2. (With an addendum: hemoglobin-J-Paris-I, alpha 2 12(A10) Ala replaced by Asp beta 2, in the same population).

Niazi GA, Efremov GD, Nikolov N, Hunter E Jr, Huisman TH.

Biochim Biophys Acta. 1975 Nov 18;412(1):181-6.

PubMed [citation]

PMID:: 1191675

Hb Serbia (alpha 112 (G19) His leads to Arg), a new haemoglobin variant from Yugoslavia.

Beksedić D, Rajevska T.

FEBS Lett. 1975 Oct 15;58(1):226-9. No abstract available.

PubMed [citation]

PMID:: 1225585

Details of each submission

From OMIM, SCV000037433.2

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

Description

See Niazi et al. (1975) and Beksedic et al. (1975).

#	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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