IthaID: 3356


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs12366219 HGVS Name: NC_000011.10:g.124023412A>G

Context nucleotide sequence:
CAGTTACCCGCTCAGGTACACCAGC [A/G] TGATGAGTGGGAGCAGATGTGCCCT (Strand: +)

Protein sequence:
MSKTSLVTAFILTGLPHAPGLDAPLFGIFLVVYVLTVLGNLLILLVIRVDSHLHTPMYYFLTNLSFIDMWFSTVTVPKMLMTLVSPSGRAISFHSCVAQLYFFHFLGSTECFLYTVMSYDRYLAISYPLRYTSVMSGSRCALLATSTWLSGSLHSAVQTILTFHLPYCGPNQIQHYLCDAPPILKLACADTSANEMVIFVDIGLVASGCFLLIVLSYVSIVCSILRIHTSEGRHRAFQTCASHCIVVLCFFVPCVFIYLRPGSRDVVDGVVAIFYTVLTPLLNPVVYTLRNKEVKKAVLKLRDKVAHSQGE

Also known as:

Comments: SNP associated with absolute neutrophil count and white blood cell levels in children with sickle cell disease acquired from the HUSTLE (Hydroxyurea Study of Long-term Effects), SWiTCH (Stroke With Transfusions Changing to Hydroxyurea) and TWiTCH (TCD With Transfusions Changing to Hydroxyurea) clinical trials.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Abnormal neutrophil cell number [HP:0011991]
Abnormal white blood cell count [HP:0011893]

Location

Chromosome: 11
Locus:
Locus Location: N/A
Size: 1 bp
Located at: OR10G9
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African-American
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Schaefer BA, Flanagan JM, Alvarez OA, Nelson SC, Aygun B, Nottage KA, George A, Roberts CW, Piccone CM, Howard TA, Davis BR, Ware RE, Genetic Modifiers of White Blood Cell Count, Albuminuria and Glomerular Filtration Rate in Children with Sickle Cell Anemia., PLoS ONE , 11(10), e0164364, 2016
Created on 2019-03-27 13:35:44, Last reviewed on 2019-03-27 13:41:08 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.