Overview

Variant ID 18024
Entrez Gene ID 23034
Gene SAMD4A (GeneCards)
Location hg19 14:55179955-55179955
hg38 14:54713237-54713237
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000014.8:g.55179955 G>A (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 107349540

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.1424
CADD Raw score (version 1.3) 0.155372 (Deleterious)
FATHMM raw prediction score 0.12945 (Tolerated)
Deleterious probability by DeFine 0.2935 (Neutral)
Entrez Gene ID 23034 (NCBI Gene)
Official Gene Symbol SAMD4A (GeneCards)
Number of variants in SAMD4A in this database 4 (view all the variants)
Full name sterile alpha motif domain containing 4A
Band 14q22.2
Other IDs Vega: OTTHUMG00000170999
OMIM: 610747
HGNC: HGNC:23023
Ensembl: ENSG00000020577
Other names SMG, SMGA, SAMD4, SMAUG, SMAUG1
Summary Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM, Mar 2008]

Individual #1

Individual ID 29217584.03 (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;