Overview

Variant ID 22820
Entrez Gene ID 101927829
Gene LOC101927829 (GeneCards)
Location hg19 3:20484004-20484004
hg38 3:20442512-20442512
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000003.11:g.20484004 G>T (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 198022430

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.0752
CADD Raw score (version 1.3) 0.932177 (Deleterious)
FATHMM raw prediction score 0.4157 (Tolerated)
Deleterious probability by DeFine 0.0819 (Neutral)
Entrez Gene ID 101927829 (NCBI Gene)
Official Gene Symbol LOC101927829 (GeneCards)
Number of variants in LOC101927829 in this database 12 (view all the variants)
Full name uncharacterized LOC101927829
Band 3p24.3
Other IDs Ensembl: ENSG00000231304
Other names None
Summary None

Individual #1

Individual ID 29217587.01 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217587

Pubmed ID 29217587
Title Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis.
Journal Science
Publication date 2018.02
Disease Asymptomatic
Number of cases cases of unknown sex: 3;