U.S. flag

An official website of the United States government

NM_000559.2(HBG1):c.293A>G (p.His98Arg) AND HEMOGLOBIN F (DICKINSON)

Germline classification:
other (1 submission)
Last evaluated:
Jul 15, 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:
RCV000016152.9

Allele description [Variation Report for NM_000559.2(HBG1):c.293A>G (p.His98Arg)]

NM_000559.2(HBG1):c.293A>G (p.His98Arg)

Genes:
LOC106099064:HBG1 recombination region [Gene]
HBG1:hemoglobin subunit gamma 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000559.2(HBG1):c.293A>G (p.His98Arg)
Other names:
H97R
HGVS:
  • NC_000011.10:g.5249390T>C
  • NG_000007.3:g.48226A>G
  • NG_042298.1:g.423T>C
  • NM_000559.3:c.293A>GMANE SELECT
  • NP_000550.2:p.His98Arg
  • NP_000550.2:p.His98Arg
  • HBG1:c.293A>G
  • NC_000011.9:g.5270620T>C
  • NM_000559.2:c.293A>G
Protein change:
H98R; HIS97ARG
Links:
HBVAR: 636; OMIM: 142200.0008; dbSNP: rs34127117
NCBI 1000 Genomes Browser:
rs34127117
Molecular consequence:
  • NM_000559.3:c.293A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN F (DICKINSON)
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036420OMIM
no assertion criteria provided
other
(Jul 15, 2011) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Genetic haemoglobin abnormalities in about 9000 Black and 7000 White newborns; haemoglobin F Dickinson (Agamma97His-Arg), a new variant.

Schneider RG, Haggard ME, Gustavson LP, Brimhall B, Jones RT.

Br J Haematol. 1974 Dec;28(4):515-24. No abstract available.

PubMed [citation]
PMID:
4455303

Details of each submission

From OMIM, SCV000036420.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

See Schneider et al. (1974).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024