U.S. flag

An official website of the United States government

NM_000518.4(HBB):c.304G>C (p.Glu102Gln) AND HEMOGLOBIN RUSH

Germline classification:
other (1 submission)
Last evaluated:
Dec 12, 2017
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:
RCV000016572.4

Allele description [Variation Report for NM_000518.4(HBB):c.304G>C (p.Glu102Gln)]

NM_000518.4(HBB):c.304G>C (p.Glu102Gln)

Genes:
LOC106099062:HBB recombination region [Gene]
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_000518.4(HBB):c.304G>C (p.Glu102Gln)
Other names:
E101Q
HGVS:
  • NC_000011.10:g.5226588C>G
  • NG_000007.3:g.71028G>C
  • NG_042296.1:g.119C>G
  • NG_046672.1:g.4523C>G
  • NG_053049.1:g.2909C>G
  • NG_059281.1:g.5484G>C
  • NM_000518.5:c.304G>CMANE SELECT
  • NP_000509.1:p.Glu102Gln
  • LRG_1232t1:c.304G>C
  • LRG_1232:g.5484G>C
  • LRG_1232p1:p.Glu102Gln
  • NC_000011.9:g.5247818C>G
  • P68871:p.Glu102Gln
Protein change:
E102Q; GLU101GLN
Links:
HBVAR: 462; UniProtKB: P68871#VAR_003024; OMIM: 141900.0242; dbSNP: rs33966487
NCBI 1000 Genomes Browser:
rs33966487
Molecular consequence:
  • NM_000518.5:c.304G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN RUSH
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
SCV000036841OMIM
no assertion criteria provided
other
(Dec 12, 2017) 		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

The structure of hemoglobin Indianapolis [beta112(G14) arginine]. An unstable variant detectable only by isotopic labeling.

Adams JG, Steinberg MH, Boxer LA, Baehner RL, Forget BG, Tsistrakis GA.

J Biol Chem. 1979 May 10;254(9):3479-82. No abstract available.

PubMed [citation]
PMID:
429365

Details of each submission

From OMIM, SCV000036841.4

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

Description

See Adams et al. (1974).

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

Last Updated: Apr 23, 2022