U.S. flag

An official website of the United States government

NM_000518.5(HBB):c.119A>G (p.Gln40Arg) AND HEMOGLOBIN TIANSHUI

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:
RCV000016624.7

Allele description [Variation Report for NM_000518.5(HBB):c.119A>G (p.Gln40Arg)]

NM_000518.5(HBB):c.119A>G (p.Gln40Arg)

Genes:
LOC106099062:HBB recombination 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.119A>G (p.Gln40Arg)
Other names:
Q39R
HGVS:
  • NC_000011.10:g.5226773T>C
  • NG_000007.3:g.70843A>G
  • NG_042296.1:g.304T>C
  • NG_046672.1:g.4708T>C
  • NG_059281.1:g.5299A>G
  • NM_000518.5:c.119A>GMANE SELECT
  • NP_000509.1:p.Gln40Arg
  • LRG_1232t1:c.119A>G
  • LRG_1232:g.5299A>G
  • LRG_1232p1:p.Gln40Arg
  • NC_000011.9:g.5248003T>C
  • P68871:p.Gln40Arg
Protein change:
Q40R; GLN39ARG
Links:
UniProtKB: P68871#VAR_002929; OMIM: 141900.0282; dbSNP: rs35973315
NCBI 1000 Genomes Browser:
rs35973315
Molecular consequence:
  • NM_000518.5:c.119A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN TIANSHUI
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
SCV000036893OMIM
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

A note about the incidence and origin of Hb D-Punjab in Xinjiang, People's Republic of China.

Li HJ, Liu DX, Li L, Liu ZG, Lo SL, Zhao J, Han XP, Yu WZ.

Hemoglobin. 1986;10(6):667-71. No abstract available.

PubMed [citation]
PMID:
3557998

Details of each submission

From OMIM, SCV000036893.7

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

Description

In a healthy 34-year-old Chinese male of Han nationality, Li et al. (1990) identified a hemoglobin variant and showed that it had a replacement of glutamine by arginine at residue 39.

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

Last Updated: Apr 23, 2022