IthaID: 3354

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
Common Name:	rs35495590	HGVS Name:	NC_000007.14:g.23689312T>C

Context nucleotide sequence:
TGACTTGGAAGCGATTCCTCAGCAG [C/T] GCCCCATTGATCTGCCCTGCCAAGT (Strand: +)

Protein sequence:
MERLTLPLGGAAAVDEYLEYRRIVGEDDGGKLFTPERYEEYKRKVLPLRLQNRLFVSWRSPTGMDCKLVGPETLCFCTHRYKQHKTDLEAIPQQRPIDLPCQVTGCQCRAYLYVPLNGSQPIRCRCKHFADQHSAAPGFTCNTCSKCSGFHSCFTCACGQPAYAHDTVVETKQERLAQEKPVGQDIPYAAMGGLTGFSSLAEGYMRLDDSGIGVPSVEFLESPITAVDSPFLKAFQASSSSSPETLTDVGTSSQVSSLRRPEEDDMAFFERRYQERMKMEKAAKWKGKAPLPSATKPS

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

dbSNP

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]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	7
Locus:
Locus Location:	N/A
Size:	1 bp
Located at:	FAM221A
Specific Location:	Exon 3

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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

Created on 2019-03-27 13:29:36, Last reviewed on 2019-03-27 13:38:28 (Show full history)

A/A	Date	Curator(s)	Comments
1	2019-03-27 13:29:36	The IthaGenes Curation Team	Created
2	2019-03-27 13:38:28	The IthaGenes Curation Team	Reviewed. Clinical phenotype added.

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