Overview

Variant ID 13923
Entrez Gene ID 6229
Gene RPS24 (GeneCards)
Location hg19 10:79945620-79945620
hg38 10:78185863-78185863
Disease Asymptomatic
Method HiSeq 2000
Mutation(HGVS format) NC_000010.10:g.79945620 C>T (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 135534747

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.2231
CADD Raw score (version 1.3) 0.178781 (Deleterious)
FATHMM raw prediction score 0.25644 (Tolerated)
Deleterious probability by DeFine 0.4205 (Neutral)
Entrez Gene ID 6229 (NCBI Gene)
Official Gene Symbol RPS24 (GeneCards)
Number of variants in RPS24 in this database 3 (view all the variants)
Full name ribosomal protein S24
Band 10q22.3
Other IDs Vega: OTTHUMG00000018549
OMIM: 602412
HGNC: HGNC:10411
Ensembl: ENSG00000138326
Other names S24, DBA3, eS24
Summary Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. [provided by RefSeq, Nov 2008]

Individual #1

Individual ID 29217584.04 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;