NC_000016.10:g.173248C>A AND HEMOGLOBIN GOUDA

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:: RCV000017217.3

Allele description [Variation Report for NC_000016.10:g.173248C>A]

NC_000016.10:g.173248C>A

Genes:

HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]
LOC106804612:hemoglobin subunit alpha 2 recombination region [Gene]
HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NC_000016.10:g.173248C>A

Other names:

H72Q; Hb Gouda

HGVS:

NC_000016.10:g.173248C>A
NG_000006.1:g.34111C>A
NG_046165.1:g.2987C>A
NG_059186.1:g.1598C>A
NG_059271.1:g.5402C>A
NG_115661.1:g.4C>A
NM_000517.6:c.219C>AMANE SELECT
NP_000508.1:p.His73Gln
LRG_1240t1:c.219C>A
LRG_1225:g.1598C>A
LRG_1240:g.5402C>A
LRG_1240p1:p.His73Gln
NC_000016.9:g.223247C>A

Protein change:

H73Q; HIS72GLN

Links:

HBVAR: Hb Gouda; OMIM: 141800.0198

Molecular consequence:

NM_000517.6:c.219C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN GOUDA
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037489	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

SCV000037489

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 Gouda [alpha 72(EF1)His-->Gln], a new silent alpha chain variant.

Giordano PC, Harteveld CL, Kok PJ, Geenen A, Batelaan D, Amons R, Bemini LF.

Hemoglobin. 1996 Feb;20(1):21-9.

PubMed [citation]

PMID:: 8745429

Details of each submission

From OMIM, SCV000037489.2

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

Description

In a 54-year-old Dutch woman under treatment for diabetes mellitus, Giordano et al. (1996) incidentally found a silent alpha-chain variant on testing for glycated hemoglobin. A CAC-to-CAA transversion was predicted to result in substitution of glutamine for histidine at residue 72 in the HBA1 gene.

#	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: Oct 8, 2024

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