Overview

Variant ID 23676
Entrez Gene ID 11103
Gene KRR1 (GeneCards)
Location hg19 12:75915401-75915401
hg38 12:75521621-75521621
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000012.11:g.75915401 G>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 133851895

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.3696
CADD Raw score (version 1.3) -0.025788 (Deleterious)
FATHMM raw prediction score 0.06279 (Tolerated)
Deleterious probability by DeFine 0.0519 (Neutral)
Entrez Gene ID 11103 (NCBI Gene)
Official Gene Symbol KRR1 (GeneCards)
Number of variants in KRR1 in this database 11 (view all the variants)
Full name KRR1, small subunit processome component homolog
Band 12q21.2
Other IDs Vega: OTTHUMG00000169759
OMIM: 612817
HGNC: HGNC:5176
Ensembl: ENSG00000111615
Other names HRB2, RIP-1
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;