Overview

Variant ID 1130
Entrez Gene ID 9343
Gene EFTUD2 (GeneCards)
Location hg19 17:42928657-42928657
hg38 17:44851289-44851289
Disease Human Skin Fibroblasts (view all the variants in this disease)
Method HiSeq 2500
Mutation(HGVS format) NC_000017.10:g.42928657 G>A (Genome Assembly: hg19)

Other information

Exon or Intron Exon
Position in protein 968
Amino acid changes in protein L > L
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 81195210

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 1.7069
CADD Raw score (version 1.3) 1.362204 (Deleterious)
FATHMM raw prediction score 0.94905 (Tolerated)
Deleterious probability by DeFine 0.9188 (Deleterious)
Entrez Gene ID 9343 (NCBI Gene)
Official Gene Symbol EFTUD2 (GeneCards)
Number of variants in EFTUD2 in this database 2 (view all the variants)
Full name elongation factor Tu GTP binding domain containing 2
Band 17q21.31
Other IDs Vega: OTTHUMG00000179865
OMIM: 603892
HGNC: HGNC:30858
Ensembl: ENSG00000108883
Other names MFDM, MFDGA, Sn114, Snrp116, SNRNP116, U5-116KD
Summary This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

Individual #1

Individual ID 27788131.02 (view all the variants in this individual)
Pubmed ID 27788131
Whose mosaic mutation Normal  
Phenotype 1  
Disease Human Skin Fibroblasts (view all the variants in this disease)
OMIM ID 120353

Publication #1: 27788131

Pubmed ID 27788131
Title The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts.
Journal PLoS Genetics
Publication date 2016.10
Disease Human Skin Fibroblasts
Population Caucasian
Number of cases Male cases: 2;