Overview

Variant ID 25782
Entrez Gene ID 101928858
Gene LOC101928858 (GeneCards)
Location hg19 5:67277647-67277647
hg38 5:67981819-67981819
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000005.9:g.67277647 C>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 180915260

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.4733
CADD Raw score (version 1.3) 0.576439 (Deleterious)
FATHMM raw prediction score 0.71734 (Tolerated)
Deleterious probability by DeFine 0.5628 (Deleterious)
Entrez Gene ID 101928858 (NCBI Gene)
Official Gene Symbol LOC101928858 (GeneCards)
Number of variants in LOC101928858 in this database 6 (view all the variants)
Full name uncharacterized LOC101928858
Band 5q13.1
Other IDs Ensembl: ENSG00000249364
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