NM_000558.5(HBA1):c.198_209dup (p.Leu67_Ala70dup) AND not provided

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000132762.9

Allele description [Variation Report for NM_000558.5(HBA1):c.198_209dup (p.Leu67_Ala70dup)]

NM_000558.5(HBA1):c.198_209dup (p.Leu67_Ala70dup)

Genes:

LOC106804613:hemoglobin subunit alpha 1 recombination region [Gene]
HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000558.5(HBA1):c.198_209dup (p.Leu67_Ala70dup)

HGVS:

NC_000016.10:g.177031_177042dup
NG_000006.1:g.37894_37905dup
NG_000006.1:g.37903_37904insGCGCTGACCAAC
NG_046166.1:g.2514_2525dup
NG_059186.1:g.5381_5392dup
NM_000558.5:c.198_209dupMANE SELECT
NP_000549.1:p.Leu67_Ala70dup
LRG_1225t1:c.198_209dup
LRG_1225:g.5381_5392dup
LRG_1225p1:p.Leu67_Ala70dup
NC_000016.9:g.227030_227041dup
NG_000006.1:g.37903_37904insGCGCTGACCAAC

Links:

dbSNP: rs34277525

NCBI 1000 Genomes Browser:

rs34277525

Molecular consequence:

NM_000558.5:c.198_209dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000187711	Miller Lab NIH/NIDDK	no classification provided	not provided	not provided	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000187711

Miller Lab NIH/NIDDK

no classification provided

not provided

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Short insertion in a hemoglobin chain: Hb Esch, an unstable alpha1 variant with duplication of the sequence Ala65-Leu-Thr-Asn68.

Préhu C, Groff P, Kalmes G, Golinska B, Riou J, Prome D, Richelme-David S, Kiger L, Ducrocq R, Wajcman H.

Blood Cells Mol Dis. 2003 Sep-Oct;31(2):234-9.

PubMed [citation]

PMID:: 12972031

Details of each submission

From Miller Lab NIH/NIDDK, SCV000187711.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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