Overview

Variant ID 22425
Entrez Gene ID 100506023
Gene LOC100506023 (GeneCards)
Location hg19 1:173429002-173429002
hg38 1:173459863-173459863
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000001.10:g.173429002 C>A (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 249250621

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.2709
CADD Raw score (version 1.3) 0.253555 (Deleterious)
FATHMM raw prediction score 0.09141 (Tolerated)
Deleterious probability by DeFine 0.0854 (Neutral)
Entrez Gene ID 100506023 (NCBI Gene)
Official Gene Symbol LOC100506023 (GeneCards)
Number of variants in LOC100506023 in this database 6 (view all the variants)
Full name uncharacterized LOC100506023
Band 1q25.1
Other IDs None:
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;