Overview

Variant ID 8964
Entrez Gene ID 2762
Gene GMDS (GeneCards)
Location hg19 6:2034471-2034471
hg38 6:2034237-2034237
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000006.11:g.2034471 T>C (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 171115067

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.3882
CADD Raw score (version 1.3) -0.269719 (Deleterious)
FATHMM raw prediction score 0.07187 (Tolerated)
Deleterious probability by DeFine 0.3897 (Neutral)
Entrez Gene ID 2762 (NCBI Gene)
Official Gene Symbol GMDS (GeneCards)
Number of variants in GMDS in this database 8 (view all the variants)
Full name GDP-mannose 4,6-dehydratase
Band 6p25.3
Other IDs Vega: OTTHUMG00000016143
OMIM: 602884
HGNC: HGNC:4369
Ensembl: ENSG00000112699
Other names GMD, SDR3E1
Summary GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are catalyzed by a single enzyme, GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase, designated FX in humans (MIM 137020).[supplied by OMIM, Aug 2009]

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;