Overview

Variant ID 24008
Entrez Gene ID 100420587
Gene LOC100420587 (GeneCards)
Location hg19 19:28984624-28984624
hg38 19:28493717-28493717
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000019.9:g.28984624 T>C (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 59128983

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.3392
CADD Raw score (version 1.3) -0.163161 (Deleterious)
FATHMM raw prediction score 0.07201 (Tolerated)
Deleterious probability by DeFine 0.0856 (Neutral)
Entrez Gene ID 100420587 (NCBI Gene)
Official Gene Symbol LOC100420587 (GeneCards)
Number of variants in LOC100420587 in this database 12 (view all the variants)
Full name SHC binding and spindle associated 1 pseudogene
Band 19q12
Other IDs Ensembl: ENSG00000283403
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;