NM_000184.2(HBG2):c.49G>C (p.Gly17Arg) AND HEMOGLOBIN F (MELBOURNE)

Germline classification:: other (1 submission)
Last evaluated:: Aug 5, 2011
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:: RCV000016113.9

Allele description [Variation Report for NM_000184.2(HBG2):c.49G>C (p.Gly17Arg)]

NM_000184.2(HBG2):c.49G>C (p.Gly17Arg)

Genes:

LOC106099065:HBG2 recombination region [Gene]
HBG2:hemoglobin subunit gamma 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000184.2(HBG2):c.49G>C (p.Gly17Arg)

Other names:

G16R

HGVS:

NC_000011.10:g.5254680C>G
NG_000007.3:g.42936G>C
NG_042299.1:g.794C>G
NM_000184.3:c.49G>CMANE SELECT
NP_000175.1:p.Gly17Arg
NP_000175.1:p.Gly17Arg
HBG2:c.49G>C
NC_000011.9:g.5275910C>G
NM_000184.2:c.49G>C
P69892:p.Gly17Arg

Protein change:

G17R; GLY16ARG

Links:

HBVAR: 586; UniProtKB: P69892#VAR_003132; OMIM: 142250.0017; dbSNP: rs34907654

NCBI 1000 Genomes Browser:

rs34907654

Molecular consequence:

NM_000184.3:c.49G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN F (MELBOURNE)
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036381	OMIM	no assertion criteria provided	other (Aug 5, 2011)	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

SCV000036381

OMIM

no assertion criteria provided

other
(Aug 5, 2011)

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

Haemoglobin F Melbourne Ggamma 16 Gly leads to Arg and haemoglobin F carlton Ggamma 121 Glu leads to Lys. Further evidence for varied activity of gamma-chain genes.

Brennan SO, Smith MB, Carrell RW.

Biochim Biophys Acta. 1977 Feb 22;490(2):452-5. No abstract available.

PubMed [citation]

PMID:: 836882

Details of each submission

From OMIM, SCV000036381.1

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

Description

See Brennan et al. (1977).

#	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: Nov 3, 2024

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