KIFBP Chromosome 10
Kinesin family binding protein
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What This Gene Does
This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Tetratricopeptide repeat domain containing
Locus Type
gene with protein product
Location
10q22.1
Ensembl
ENSG00000198954
Associated Conditions (2)
Goldberg-Shprintzen syndrome
KIFBP-related disorder
Key Variants
RS139483880
Conflicting classifications of pathogenicity
Health Risk
RS1399051445
Conflicting classifications of pathogenicity
Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
Health Risk
RS142011043
Conflicting classifications of pathogenicity
Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
Health Risk
RS143815412
Conflicting classifications of pathogenicity
Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
Health Risk
RS144067344
Conflicting classifications of pathogenicity
Goldberg-Shprintzen syndrome, KIFBP-related disorder, Goldberg-Shprintzen syndrome
Health Risk
RS200098813
Conflicting classifications of pathogenicity
Health Risk
RS201076497
Conflicting classifications of pathogenicity
Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
Health Risk
RS201777829
Conflicting classifications of pathogenicity
Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
Health Risk
RS371537907
Conflicting classifications of pathogenicity
Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
Health Risk
RS906050638
Conflicting classifications of pathogenicity
Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
Health Risk
RS2132120181
Likely pathogenic
Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
Health Risk
RS2492297177
Likely pathogenic
Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139483880 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1399051445 | Health Risk | Conflicting classifications of pathogenicity | Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome |
| RS142011043 | Health Risk | Conflicting classifications of pathogenicity | Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome |
| RS143815412 | Health Risk | Conflicting classifications of pathogenicity | Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome |
| RS144067344 | Health Risk | Conflicting classifications of pathogenicity | Goldberg-Shprintzen syndrome, KIFBP-related disorder, Goldberg-Shprintzen syndrome |
| RS200098813 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201076497 | Health Risk | Conflicting classifications of pathogenicity | Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome |
| RS201777829 | Health Risk | Conflicting classifications of pathogenicity | Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome |
| RS371537907 | Health Risk | Conflicting classifications of pathogenicity | Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome |
| RS906050638 | Health Risk | Conflicting classifications of pathogenicity | Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome |
| RS2132120181 | Health Risk | Likely pathogenic | Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome |
| RS2492297177 | Health Risk | Likely pathogenic | Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome |
| RS755318029 | Health Risk | Likely pathogenic | — |
| RS770201721 | Health Risk | Likely pathogenic | Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome |
| RS121434514 | Health Risk | Pathogenic | Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome |
| RS121434515 | Health Risk | Pathogenic | Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome |
| RS1293340864 | Health Risk | Pathogenic | Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome |
| RS2132104341 | Health Risk | Pathogenic | Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome |
| RS2132119741 | Health Risk | Pathogenic | Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome |
| RS730882150 | Health Risk | Pathogenic | Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome |
| RS730882151 | Health Risk | Pathogenic | Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome |
| RS757081898 | Health Risk | Pathogenic | Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome |
| RS769950460 | Health Risk | Pathogenic/Likely pathogenic | Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome |
| RS781469363 | Health Risk | Pathogenic/Likely pathogenic | Goldberg-Shprintzen syndrome, KIFBP-related disorder, Goldberg-Shprintzen syndrome |