Variant ID | 8508 |
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Entrez Gene ID | 285643 |
Gene | KIF4B (GeneCards) |
Location | hg19 5:155115504-155115504
hg38 5:155735944-155735944 |
Disease | Asymptomatic |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000005.9:g.155115504 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 | 180915260 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | 0.3524 |
CADD Raw score (version 1.3) | 0.407617 (Deleterious) |
FATHMM raw prediction score | 0.20079 (Tolerated) |
Deleterious probability by DeFine | 0.5768 (Deleterious) |
Entrez Gene ID | 285643 (NCBI Gene) |
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Official Gene Symbol | KIF4B (GeneCards) |
Number of variants in KIF4B in this database | 25 (view all the variants) |
Full name | kinesin family member 4B |
Band | 5q33.2 |
Other IDs | Vega: OTTHUMG00000164143 OMIM: 609184 HGNC: HGNC:6322 Ensembl: ENSG00000226650 |
Other names | None |
Summary | This gene is an intronless retrocopy of kinesin family member 4A. The protein encoded by this gene is a microtubule-based motor protein that plays vital roles in anaphase spindle dynamics and cytokinesis. [provided by RefSeq, Jul 2016] |
Individual ID | 29217584.15 (view all the variants in this individual) |
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Pubmed ID | 29217584 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |
Pubmed ID | 29217584 |
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Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
Journal | Science |
Publication date | 2018.02 |
Disease | Cockayne syndrome Xeroderma Pigmentosum |
Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |