Variant ID | 23676 |
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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) |
Exon or Intron | NA |
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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 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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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) |
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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 ID | 29217587.01 (view all the variants in this individual) |
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Pubmed ID | 29217587 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |
Pubmed ID | 29217587 |
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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; |