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NM_000518.4(HBB):c.361A>G (p.Lys121Glu) AND HEMOGLOBIN HIJIYAMA

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:
RCV000016378.4

Allele description [Variation Report for NM_000518.4(HBB):c.361A>G (p.Lys121Glu)]

NM_000518.4(HBB):c.361A>G (p.Lys121Glu)

Genes:
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.361A>G (p.Lys121Glu)
Other names:
K120E
HGVS:
  • NC_000011.10:g.5225681T>C
  • NG_000007.3:g.71935A>G
  • NG_046672.1:g.3616T>C
  • NG_053049.1:g.2002T>C
  • NG_059281.1:g.6391A>G
  • NM_000518.5:c.361A>GMANE SELECT
  • NP_000509.1:p.Lys121Glu
  • LRG_1232t1:c.361A>G
  • LRG_1232:g.6391A>G
  • LRG_1232p1:p.Lys121Glu
  • NC_000011.9:g.5246911T>C
  • P68871:p.Lys121Glu
Protein change:
K121E; LYS120GLU
Links:
HBVAR: 505; UniProtKB: P68871#VAR_003043; OMIM: 141900.0105; dbSNP: rs33924134
NCBI 1000 Genomes Browser:
rs33924134
Molecular consequence:
  • NM_000518.5:c.361A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN HIJIYAMA
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036646OMIM
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

Hemoglobin Hijiyama: a new fast-moving hemoglobin in a Japanese family.

Miyaji T, Oba Y, Yamamoto K, Shibata S, Iuchi I, Hamilton HB.

Science. 1968 Jan 12;159(3811):204-6.

PubMed [citation]
PMID:
5634912

Details of each submission

From OMIM, SCV000036646.4

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

Description

See Miyaji et al. (1968).

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

Last Updated: Apr 23, 2022