NM_000518.5(HBB):c.335T>C (p.Val112Ala) AND HEMOGLOBIN STANMORE

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:: RCV000016607.4

Allele description [Variation Report for NM_000518.5(HBB):c.335T>C (p.Val112Ala)]

NM_000518.5(HBB):c.335T>C (p.Val112Ala)

Genes:

LOC110006319:beta-globin gene 3' regulatory region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000518.5(HBB):c.335T>C (p.Val112Ala)

Other names:

V111A

HGVS:

NC_000011.10:g.5225707A>G
NG_000007.3:g.71909T>C
NG_046672.1:g.3642A>G
NG_053049.1:g.2028A>G
NG_059281.1:g.6365T>C
NM_000518.5:c.335T>CMANE SELECT
NP_000509.1:p.Val112Ala
LRG_1232t1:c.335T>C
LRG_1232:g.6365T>C
LRG_1232p1:p.Val112Ala
NC_000011.9:g.5246937A>G
P68871:p.Val112Ala

Protein change:

V112A; VAL111ALA

Links:

UniProtKB: P68871#VAR_003034; OMIM: 141900.0270; dbSNP: rs35871407

NCBI 1000 Genomes Browser:

rs35871407

Molecular consequence:

NM_000518.5:c.335T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN STANMORE
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036876	OMIM	no assertion criteria provided	other (Jul 20, 2016)	germline	literature only	Como, P. F., Hocking, D., Trent, R. A., Wilkinson, T., Wylie, B. R., Bruce, D., Kronenberg, H. Hb Geelong (beta139 asn-to-asp) and Hb Stanmore (beta111 val-to-ala): two new unstable haemoglobins which illustrate the problem of distinguishing a haemoglobin with a thalassaemic phenotype from one inherited along with beta thalassaemia in either cis or trans. (Abstract) Proceedings of the Haematology Society, Australia, Perth, West Australia, October 1984.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036876

OMIM

no assertion criteria provided

other
(Jul 20, 2016)

germline

literature only

Como, P. F., Hocking, D., Trent, R. A., Wilkinson, T., Wylie, B. R., Bruce, D., Kronenberg, H. Hb Geelong (beta139 asn-to-asp) and Hb Stanmore (beta111 val-to-ala): two new unstable haemoglobins which illustrate the problem of distinguishing a haemoglobin with a thalassaemic phenotype from one inherited along with beta thalassaemia in either cis or trans. (Abstract) Proceedings of the Haematology Society, Australia, Perth, West Australia, October 1984.

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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

Details of each submission

From OMIM, SCV000036876.3

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

Description

See Como et al. (1984).

#	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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