NM_000518.5(HBB):c.122G>A (p.Arg41Lys) AND HEMOGLOBIN ATHENS-GEORGIA

Clinical significance:other (Last evaluated: Dec 12, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000016252.6

Allele description [Variation Report for NM_000518.5(HBB):c.122G>A (p.Arg41Lys)]

NM_000518.5(HBB):c.122G>A (p.Arg41Lys)

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.122G>A (p.Arg41Lys)
Other names:
R40K; Hb Waco
HGVS:
  • NC_000011.10:g.5226770C>T
  • NG_000007.3:g.70846G>A
  • NG_042296.1:g.301C>T
  • NG_046672.1:g.4705C>T
  • NG_059281.1:g.5302G>A
  • NM_000518.5:c.122G>AMANE SELECT
  • NP_000509.1:p.Arg41Lys
  • LRG_1232t1:c.122G>A
  • HBB:c.122G>A
  • LRG_1232:g.5302G>A
  • LRG_1232p1:p.Arg41Lys
  • NC_000011.9:g.5248000C>T
  • NM_000518.4:c.122G>A
Protein change:
R41K; ARG40LYS
Links:
HBVAR: 310; OMIM: 141900.0011; dbSNP: rs34831026
NCBI 1000 Genomes Browser:
rs34831026
Molecular consequence:
  • NM_000518.5:c.122G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN ATHENS-GEORGIA
Identifiers:

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036520OMIMno assertion criteria providedother
(Dec 12, 2017)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Hemoglobin Athens-Georgia, or alpha 2 beta 2 40(C6)Arg replaced by Lys, a hemoglobin variant with an increased oxygen affinity.

Brown WJ, Niazi GA, Jayalakshmi M, Abraham EC, Huisman TH.

Biochim Biophys Acta. 1976 Jul 19;439(1):70-6.

PubMed [citation]
PMID:
8114

Hb Rancho Mirage [beta 143(H21)His----Asp]; a variant in the 2,3-DPG binding site showing normal oxygen affinity at physiological pH.

Moo-Penn WF, Hine TK, Johnson MH, Jue DL, Holland S, George S, Pierce AM, Michalski LA, McDonald MJ.

Hemoglobin. 1992;16(1-2):35-44.

PubMed [citation]
PMID:
1634360

Details of each submission

From OMIM, SCV000036520.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

See Brown et al. (1976) and Moo-Penn et al. (1977).

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

Last Updated: Nov 27, 2021

Support Center