Overview

Variant ID 27384
Entrez Gene ID 101928944
Gene LOC101928944 (GeneCards)
Location hg19 11:80833586-80833586
hg38 11:81122543-81122543
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000011.9:g.80833586 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 135006516

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.4065
CADD Raw score (version 1.3) -0.093252 (Deleterious)
FATHMM raw prediction score 0.0513 (Tolerated)
Deleterious probability by DeFine 0.2847 (Neutral)
Entrez Gene ID 101928944 (NCBI Gene)
Official Gene Symbol LOC101928944 (GeneCards)
Number of variants in LOC101928944 in this database 13 (view all the variants)
Full name uncharacterized LOC101928944
Band 11q14.1
Other IDs Ensembl: ENSG00000255178
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