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NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 23, 2016
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:
RCV000477892.10

Allele description [Variation Report for NM_000518.5(HBB):c.20A>T (p.Glu7Val)]

NM_000518.5(HBB):c.20A>T (p.Glu7Val)

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.20A>T (p.Glu7Val)
Other names:
E6V; HbS
HGVS:
  • NC_000011.10:g.5227002T>A
  • NG_000007.3:g.70614A>T
  • NG_042296.1:g.533T>A
  • NG_046672.1:g.4937T>A
  • NG_059281.1:g.5070A>T
  • NM_000518.5:c.20A>TMANE SELECT
  • NP_000509.1:p.Glu7Val
  • NP_000509.1:p.Glu7Val
  • LRG_1232t1:c.20A>T
  • LRG_1232:g.5070A>T
  • LRG_1232p1:p.Glu7Val
  • NC_000011.9:g.5248232T>A
  • NM_000518.4:c.20A>T
  • P68871:p.Glu7Val
Protein change:
E7V; Glu6Val
Links:
Genetic Testing Registry (GTR): GTR000500319; UniProtKB: P68871#VAR_002863; OMIM: 141900.0039; OMIM: 141900.0040; OMIM: 141900.0243; OMIM: 141900.0244; OMIM: 141900.0245; OMIM: 141900.0246; OMIM: 141900.0247; OMIM: 141900.0521; OMIM: 141900.0523; dbSNP: rs334
NCBI 1000 Genomes Browser:
rs334
Molecular consequence:
  • NM_000518.5:c.20A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dominant beta-thalassemia
Synonyms:
DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE; Beta-thalassemia, dominant inclusion body type
Identifiers:
MONDO: MONDO:0011381; MedGen: C1858990; Orphanet: 231226; Orphanet: 848; OMIM: 603902
Name:
Fetal hemoglobin quantitative trait locus 1 (HBFQTL1)
Identifiers:
MedGen: C1841621; Orphanet: 251380
Name:
Heinz body anemia
Synonyms:
Heinz body anemias; Heinz body hemolytic anemia
Identifiers:
MONDO: MONDO:0007705; MedGen: C0700299; Orphanet: 178330; OMIM: 140700; Human Phenotype Ontology: HP:0005511
Name:
Hb SS disease (SCD)
Synonyms:
Sickle cell anemia; HbS disease; Hemoglobin S Disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011382; MedGen: C0002895; Orphanet: 232; OMIM: 603903
Name:
Malaria, susceptibility to
Identifiers:
MONDO: MONDO:0021024; MedGen: C1970028; Orphanet: 673; OMIM: 611162
Name:
beta Thalassemia (BTHAL)
Synonyms:
Cooley's anemia; Erythroblastic anemia; Mediterranean anemia
Identifiers:
MONDO: MONDO:0019402; MedGen: C0005283; Orphanet: 848

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000536833Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq
no assertion criteria provided
Pathogenic
(Feb 23, 2016) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq, SCV000536833.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024