Overview

Variant ID 26926
Entrez Gene ID 286238
Gene LOC286238 (GeneCards)
Location hg19 9:91326223-91326223
hg38 9:88711308-88711308
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000009.11:g.91326223 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 141213431

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.2429
CADD Raw score (version 1.3) -0.005878 (Deleterious)
FATHMM raw prediction score 0.0846 (Tolerated)
Deleterious probability by DeFine 0.3267 (Neutral)
Entrez Gene ID 286238 (NCBI Gene)
Official Gene Symbol LOC286238 (GeneCards)
Number of variants in LOC286238 in this database 3 (view all the variants)
Full name uncharacterized LOC286238
Band 9q22.1
Other IDs Ensembl: ENSG00000228189
Other names None
Summary None

Individual #1

Individual ID 29217587.03 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID