Overview

Variant ID 26798
Entrez Gene ID 100506422
Gene LOC100506422 (GeneCards)
Location hg19 9:26490257-26490257
hg38 9:26490259-26490259
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000009.11:g.26490257 T>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 141213431

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.2508
CADD Raw score (version 1.3) -0.10472 (Deleterious)
FATHMM raw prediction score 0.12227 (Tolerated)
Deleterious probability by DeFine 0.0496 (Neutral)
Entrez Gene ID 100506422 (NCBI Gene)
Official Gene Symbol LOC100506422 (GeneCards)
Number of variants in LOC100506422 in this database 13 (view all the variants)
Full name putative deoxyuridine 5'-triphosphate nucleotidohydrolase-like protein FLJ16323
Band 9p21.2
Other IDs None:
Other names None
Summary None

Individual #1

Individual ID 29217587.02 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID