U.S. flag

An official website of the United States government

NM_000518.5(HBB):c.425_433del (p.Leu142_Lys145delinsGln) AND HEMOGLOBIN BIRMINGHAM

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:
RCV000016736.4

Allele description [Variation Report for NM_000518.5(HBB):c.425_433del (p.Leu142_Lys145delinsGln)]

NM_000518.5(HBB):c.425_433del (p.Leu142_Lys145delinsGln)

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:
Deletion
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.425_433del (p.Leu142_Lys145delinsGln)
HGVS:
  • NC_000011.10:g.5225609_5225617del
  • NG_000007.3:g.71999_72007del
  • NG_046672.1:g.3544_3552del
  • NG_053049.1:g.1930_1938del
  • NG_059281.1:g.6455_6463del
  • NM_000518.5:c.425_433delMANE SELECT
  • NP_000509.1:p.Leu142_Lys145delinsGln
  • LRG_1232t1:c.425_433del
  • LRG_1232:g.6455_6463del
  • LRG_1232p1:p.Leu142_Lys145delinsGln
  • NC_000011.9:g.5246839_5246847del
Links:
OMIM: 141900.0389; dbSNP: rs34383403
NCBI 1000 Genomes Browser:
rs34383403
Molecular consequence:
  • NM_000518.5:c.425_433del - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:
HEMOGLOBIN BIRMINGHAM
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
SCV000037006OMIM
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 Birmingham and hemoglobin Galicia: two unstable beta chain variants characterized by small deletions and insertions.

Wilson JB, Webber BB, Hu H, Kutlar A, Kutlar F, Codrington JF, Prchal JT, Hall KM, de Pablos JM, Rodriguez I, et al.

Blood. 1990 May 1;75(9):1883-7.

PubMed [citation]
PMID:
2158827

Details of each submission

From OMIM, SCV000037006.4

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

Description

Wilson et al. (1990) found loss of leu-ala-his-lys at positions 141, 142, 143, and 144 and their replacement by a gln residue. The changes were the result of a deletion of 9 nucleotides, namely, 2 bp of codon 141, all of codons 142 and 143, and 1 bp of codon 144; the remaining CAG triplet (C from codon 141 and AG from codon 144) codes for the inserted glutamine.

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

Last Updated: Apr 23, 2022