IthaID: 2479

Names and Sequences

Functionality:	Neutral polymorphism	Pathogenicity:	N/A
Common Name:	1992 bp deletion	HGVS Name:	NG_000007.3:g.11835_13826del

Also known as:

External Links

HbVar

Phenotype

Allele Phenotype:	Neutral
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	11835
Size:	1.992 kb
Deletion involves:	βLCR

Other details

Type of Mutation:	Deletion
Ethnic Origin:	Spanish
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Breakpoint Determined:	No

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Created on 2014-06-04 09:49:02, Last reviewed on 2022-02-02 11:16:00 (Show full history)

A/A	Date	Curator(s)	Comments
1	2014-06-04 09:49:02	The IthaGenes Curation Team	Created
2	2014-06-04 09:50:29	The IthaGenes Curation Team	Reviewed. Detection method added.
3	2022-02-02 11:16:00	The IthaGenes Curation Team	Reviewed. HGVS name corrected.

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