IthaID: 3647


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs3850229 HGVS Name: NC_000006.12:g.147857222G>A

Context nucleotide sequence:
GTTTGCCTAATAATAATGCAACTATGG [G>A] CCAGGCACAGTGGCTCATGCCTGTAA (Strand: +)

Also known as:

Comments: Reported as a genic downstream transcript variant. Associated with F-cell levels in a pediatric cohort with sickle cell anaemia from the Silent Cerebral Infarct Transfusion (SIT) trial.

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: F-cell numbers

Location

Chromosome: 6
Locus: NM_001030060.3
Locus Location: N/A
Size: 1 bp
Located at: SAMD5
Specific Location: N/A

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Bhatnagar P, Purvis S, Barron-Casella E, DeBaun MR, Casella JF, Arking DE, Keefer JR, Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients., J. Hum. Genet. , 56(4), 316-23, 2011
Created on 2020-10-06 15:47:09, Last reviewed on (Show full history)

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