IthaID: 3180



Names and Sequences

Functionality: Neutral polymorphism
Common Name: +1536 A>G HGVS Name: NG_000007.3:g.72080A>G

Context nucleotide sequence:
TGTTCCCTAAGTCCAACTACT [A/G] AACTGGGGGATATTATGAAGGGCCTTGAG (Strand: -)

Comments: Found during a routine molecular analysis. Based on the normal hematology and clinical expression in the mother and child (both carriers for the novel single nucleotide variant), the mutation is likely non-pathogenic.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 72080
Size: 1 bp
Located at: β
Specific Location: 3'UTR

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Middle East
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1Traeger Synodinos, Jan2017-02-15First report.
Created on 2017-02-17 15:56:53, Last reviewed on 2017-02-17 16:00:55 (Show full history)

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