Overview

Variant ID 27926
Entrez Gene ID 101927620
Gene LOC101927620 (GeneCards)
Location hg19 14:53651468-53651468
hg38 14:53184750-53184750
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000014.8:g.53651468 A>G (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 -0.0367
CADD Raw score (version 1.3) -0.136941 (Deleterious)
FATHMM raw prediction score 0.11365 (Tolerated)
Deleterious probability by DeFine 0.2652 (Neutral)
Entrez Gene ID 101927620 (NCBI Gene)
Official Gene Symbol LOC101927620 (GeneCards)
Number of variants in LOC101927620 in this database 17 (view all the variants)
Full name uncharacterized LOC101927620
Band 14q22.1
Other IDs Ensembl: ENSG00000258731
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