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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hereditary spastic paraplegia 33 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hereditary spastic paraplegia 33 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
4. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
5. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
PMID:14702039 | PMID:15164054 | PMID:15489334 | PMID:16385451 | PMID:16712791 | PMID:16826525 | PMID:17082457 | PMID:18459960 | PMID:18606302 | PMID:19289470 | PMID:20301682 | PMID:21832049 |
PMID:21873635 | PMID:21976701 | PMID:22573551 | PMID:23969831 | PMID:24668814 | PMID:26760575 | PMID:26871637 | PMID:28514442 | PMID:29676528 | PMID:30021884 | PMID:31772151 | PMID:32296183 |
PMID:32479595 | PMID:32917905 | PMID:33154382 | PMID:33961781 | PMID:34079125 | PMID:34432599 | PMID:35271311 |
ZFYVE27 (Homo sapiens - human) |
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Zfyve27 (Mus musculus - house mouse) |
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Zfyve27 (Rattus norvegicus - Norway rat) |
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Zfyve27 (Chinchilla lanigera - long-tailed chinchilla) |
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ZFYVE27 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ZFYVE27 (Canis lupus familiaris - dog) |
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Zfyve27 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ZFYVE27 (Sus scrofa - pig) |
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ZFYVE27 (Chlorocebus sabaeus - green monkey) |
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Zfyve27 (Heterocephalus glaber - naked mole-rat) |
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SHGC-64748 |
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STS-N20191 |
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D11S2921 |
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The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 2424 | 2412 | 1666 | 564 | 1810 | 409 | 3776 | 1272 | 3414 | 400 | 1446 | 1600 | 169 | 1 | 1197 | 2219 | 5 | 1 |
Low | 15 | 579 | 60 | 60 | 141 | 56 | 581 | 925 | 320 | 19 | 14 | 13 | 5 | 7 | 569 | 1 | 1 | |
Below cutoff |
RefSeq Acc Id: | ENST00000337540 ⟹ ENSP00000337993 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000357540 ⟹ ENSP00000350148 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000359980 ⟹ ENSP00000353069 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000370610 ⟹ ENSP00000359642 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000370613 ⟹ ENSP00000359646 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000393677 ⟹ ENSP00000377282 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000423811 ⟹ ENSP00000409594 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000462887 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000473237 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000477521 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000481956 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000684270 ⟹ ENSP00000506975 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001002261 ⟹ NP_001002261 | ||||||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001002262 ⟹ NP_001002262 | ||||||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001174119 ⟹ NP_001167590 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001174120 ⟹ NP_001167591 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001174121 ⟹ NP_001167592 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001174122 ⟹ NP_001167593 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385871 ⟹ NP_001372800 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385875 ⟹ NP_001372804 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385876 ⟹ NP_001372805 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385877 ⟹ NP_001372806 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385878 ⟹ NP_001372807 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385879 ⟹ NP_001372808 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385880 ⟹ NP_001372809 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385881 ⟹ NP_001372810 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385882 ⟹ NP_001372811 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385883 ⟹ NP_001372812 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385884 ⟹ NP_001372813 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385885 ⟹ NP_001372814 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385886 ⟹ NP_001372815 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385887 ⟹ NP_001372816 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385888 ⟹ NP_001372817 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385889 ⟹ NP_001372818 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385890 ⟹ NP_001372819 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385891 ⟹ NP_001372820 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385892 ⟹ NP_001372821 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385893 ⟹ NP_001372822 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385894 ⟹ NP_001372823 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385895 ⟹ NP_001372824 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385896 ⟹ NP_001372825 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385897 ⟹ NP_001372826 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385898 ⟹ NP_001372827 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385899 ⟹ NP_001372828 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385900 ⟹ NP_001372829 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385901 ⟹ NP_001372830 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385902 ⟹ NP_001372831 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385903 ⟹ NP_001372832 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385904 ⟹ NP_001372833 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385905 ⟹ NP_001372834 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385906 ⟹ NP_001372835 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385908 ⟹ NP_001372837 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385911 ⟹ NP_001372840 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385915 ⟹ NP_001372844 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385916 ⟹ NP_001372845 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385918 ⟹ NP_001372847 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001385919 ⟹ NP_001372848 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_144588 ⟹ NP_653189 | ||||||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_169794 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_169795 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_169796 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_169797 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_169798 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_169799 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_169800 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_169801 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_169802 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_169803 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_169804 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_169805 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_169806 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_169808 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_169809 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_169810 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_169811 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_011539252 ⟹ XP_011537554 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011539253 ⟹ XP_011537555 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017015644 ⟹ XP_016871133 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017015645 ⟹ XP_016871134 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017015646 ⟹ XP_016871135 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047424567 ⟹ XP_047280523 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_945594 | ||||||||
RefSeq Status: | |||||||||
Type: | NON-CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | NP_653189 ⟸ NM_144588 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q96M08 (UniProtKB/Swiss-Prot), Q5T4F4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001002262 ⟸ NM_001002262 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q5T4F4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001167591 ⟸ NM_001174120 |
- Peptide Label: | isoform 5 |
- UniProtKB: | Q5T4F4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001167590 ⟸ NM_001174119 |
- Peptide Label: | isoform 4 |
- UniProtKB: | Q5T4F4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001167592 ⟸ NM_001174121 |
- Peptide Label: | isoform 6 |
- UniProtKB: | Q5T4F4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001167593 ⟸ NM_001174122 |
- Peptide Label: | isoform 7 |
- UniProtKB: | Q5T4F4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001002261 ⟸ NM_001002261 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q5T4F4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011537555 ⟸ XM_011539253 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_011537554 ⟸ XM_011539252 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_016871133 ⟸ XM_017015644 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_016871134 ⟸ XM_017015645 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_016871135 ⟸ XM_017015646 |
- Peptide Label: | isoform X5 |
- UniProtKB: | B7Z6J9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000409594 ⟸ ENST00000423811 |
RefSeq Acc Id: | ENSP00000353069 ⟸ ENST00000359980 |
RefSeq Acc Id: | ENSP00000359642 ⟸ ENST00000370610 |
RefSeq Acc Id: | ENSP00000359646 ⟸ ENST00000370613 |
RefSeq Acc Id: | ENSP00000337993 ⟸ ENST00000337540 |
RefSeq Acc Id: | ENSP00000377282 ⟸ ENST00000393677 |
RefSeq Acc Id: | ENSP00000350148 ⟸ ENST00000357540 |
RefSeq Acc Id: | NP_001372805 ⟸ NM_001385876 |
- Peptide Label: | isoform 8 |
RefSeq Acc Id: | NP_001372800 ⟸ NM_001385871 |
- Peptide Label: | isoform 1 |
RefSeq Acc Id: | NP_001372808 ⟸ NM_001385879 |
- Peptide Label: | isoform 10 |
RefSeq Acc Id: | NP_001372832 ⟸ NM_001385903 |
- Peptide Label: | isoform 24 |
RefSeq Acc Id: | NP_001372828 ⟸ NM_001385899 |
- Peptide Label: | isoform 22 |
RefSeq Acc Id: | NP_001372831 ⟸ NM_001385902 |
- Peptide Label: | isoform 23 |
RefSeq Acc Id: | NP_001372837 ⟸ NM_001385908 |
- Peptide Label: | isoform 26 |
RefSeq Acc Id: | NP_001372819 ⟸ NM_001385890 |
- Peptide Label: | isoform 18 |
RefSeq Acc Id: | NP_001372824 ⟸ NM_001385895 |
- Peptide Label: | isoform 20 |
RefSeq Acc Id: | NP_001372826 ⟸ NM_001385897 |
- Peptide Label: | isoform 21 |
RefSeq Acc Id: | NP_001372817 ⟸ NM_001385888 |
- Peptide Label: | isoform 16 |
RefSeq Acc Id: | NP_001372844 ⟸ NM_001385915 |
- Peptide Label: | isoform 6 |
RefSeq Acc Id: | NP_001372807 ⟸ NM_001385878 |
- Peptide Label: | isoform 10 |
RefSeq Acc Id: | NP_001372804 ⟸ NM_001385875 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q96M08 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001372806 ⟸ NM_001385877 |
- Peptide Label: | isoform 9 |
RefSeq Acc Id: | NP_001372809 ⟸ NM_001385880 |
- Peptide Label: | isoform 3 |
RefSeq Acc Id: | NP_001372815 ⟸ NM_001385886 |
- Peptide Label: | isoform 14 |
RefSeq Acc Id: | NP_001372818 ⟸ NM_001385889 |
- Peptide Label: | isoform 17 |
RefSeq Acc Id: | NP_001372810 ⟸ NM_001385881 |
- Peptide Label: | isoform 15 |
RefSeq Acc Id: | NP_001372833 ⟸ NM_001385904 |
- Peptide Label: | isoform 24 |
RefSeq Acc Id: | NP_001372829 ⟸ NM_001385900 |
- Peptide Label: | isoform 22 |
RefSeq Acc Id: | NP_001372834 ⟸ NM_001385905 |
- Peptide Label: | isoform 25 |
RefSeq Acc Id: | NP_001372845 ⟸ NM_001385916 |
- Peptide Label: | isoform 28 |
RefSeq Acc Id: | NP_001372830 ⟸ NM_001385901 |
- Peptide Label: | isoform 23 |
RefSeq Acc Id: | NP_001372840 ⟸ NM_001385911 |
- Peptide Label: | isoform 27 |
RefSeq Acc Id: | NP_001372835 ⟸ NM_001385906 |
- Peptide Label: | isoform 26 |
RefSeq Acc Id: | NP_001372847 ⟸ NM_001385918 |
- Peptide Label: | isoform 29 |
RefSeq Acc Id: | NP_001372848 ⟸ NM_001385919 |
- Peptide Label: | isoform 30 |
RefSeq Acc Id: | NP_001372822 ⟸ NM_001385893 |
- Peptide Label: | isoform 20 |
RefSeq Acc Id: | NP_001372827 ⟸ NM_001385898 |
- Peptide Label: | isoform 21 |
RefSeq Acc Id: | NP_001372814 ⟸ NM_001385885 |
- Peptide Label: | isoform 13 |
RefSeq Acc Id: | NP_001372816 ⟸ NM_001385887 |
- Peptide Label: | isoform 16 |
RefSeq Acc Id: | NP_001372820 ⟸ NM_001385891 |
- Peptide Label: | isoform 18 |
RefSeq Acc Id: | NP_001372823 ⟸ NM_001385894 |
- Peptide Label: | isoform 20 |
RefSeq Acc Id: | NP_001372821 ⟸ NM_001385892 |
- Peptide Label: | isoform 19 |
RefSeq Acc Id: | NP_001372825 ⟸ NM_001385896 |
- Peptide Label: | isoform 21 |
RefSeq Acc Id: | NP_001372811 ⟸ NM_001385882 |
- Peptide Label: | isoform 11 |
RefSeq Acc Id: | NP_001372813 ⟸ NM_001385884 |
- Peptide Label: | isoform 12 |
RefSeq Acc Id: | NP_001372812 ⟸ NM_001385883 |
- Peptide Label: | isoform 12 |
RefSeq Acc Id: | ENSP00000506975 ⟸ ENST00000684270 |
RefSeq Acc Id: | XP_047280523 ⟸ XM_047424567 |
- Peptide Label: | isoform X6 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q5T4F4-F1-model_v2 | AlphaFold | Q5T4F4 | 1-411 | view protein structure |
RGD ID: | 7218349 | ||||||||
Promoter ID: | EPDNEW_H14920 | ||||||||
Type: | initiation region | ||||||||
Name: | ZFYVE27_1 | ||||||||
Description: | zinc finger FYVE-type containing 27 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6788409 | ||||||||
Promoter ID: | HG_KWN:10779 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000337540, NM_001002262, NM_001174119, NM_001174120, NM_001174121, NM_001174122, NM_144588, OTTHUMT00000049746, OTTHUMT00000049749, UC001KOK.1, UC001KON.2, UC001KOO.2, UC001KOP.2 | ||||||||
Position: |
|
RGD ID: | 6788386 | ||||||||
Promoter ID: | HG_KWN:10780 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, HeLa_S3, K562, Lymphoblastoid | ||||||||
Transcripts: | NM_001002261 | ||||||||
Position: |
|
RGD ID: | 6788388 | ||||||||
Promoter ID: | HG_KWN:10782 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000049743, OTTHUMT00000049744 | ||||||||
Position: |
|
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000001352]|Spastic paraplegia [RCV000471962]|Spastic tetraparesis [RCV000415084]|not provided [RCV001723530]|not specified [RCV000407569] | Chr10:97749494 [GRCh38] Chr10:99509251 [GRCh37] Chr10:10q24.2 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 | copy number gain | See cases [RCV000050747] | Chr10:95112607..116776637 [GRCh38] Chr10:96872364..118383651 [GRCh37] Chr10:96862354..118526138 [NCBI36] Chr10:10q23.33-25.3 |
pathogenic |
GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1 | copy number loss | See cases [RCV000052564] | Chr10:92626680..97755102 [GRCh38] Chr10:94386437..99514859 [GRCh37] Chr10:94376417..99504849 [NCBI36] Chr10:10q23.33-24.2 |
pathogenic |
GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1 | copy number loss | See cases [RCV000052565] | Chr10:93181201..101356779 [GRCh38] Chr10:94940958..103116536 [GRCh37] Chr10:94930948..103106526 [NCBI36] Chr10:10q23.33-24.32 |
pathogenic |
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] | Chr10:91048545..133620674 [GRCh38] Chr10:92808302..135434178 [GRCh37] Chr10:92798282..135284168 [NCBI36] Chr10:10q23.31-26.3 |
pathogenic |
NM_001385875.1(ZFYVE27):c.244G>A (p.Val82Ile) | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000289612]|Spastic paraplegia [RCV000467824]|not specified [RCV000118903] | Chr10:97743140 [GRCh38] Chr10:99502897 [GRCh37] Chr10:10q24.2 |
benign|likely benign |
NM_001385875.1(ZFYVE27):c.378G>A (p.Lys126=) | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000344472]|Spastic paraplegia [RCV000205019]|not specified [RCV000118904] | Chr10:97744838 [GRCh38] Chr10:99504595 [GRCh37] Chr10:10q24.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001385875.1(ZFYVE27):c.413G>T (p.Gly138Val) | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000290843]|Spastic paraplegia [RCV000860144]|not provided [RCV001610429]|not specified [RCV000118905] | Chr10:97744873 [GRCh38] Chr10:99504630 [GRCh37] Chr10:10q24.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001385875.1(ZFYVE27):c.800C>T (p.Thr267Met) | single nucleotide variant | not specified [RCV000194065] | Chr10:97750466 [GRCh38] Chr10:99510223 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.1042G>A (p.Gly348Arg) | single nucleotide variant | Spastic paraplegia [RCV000200396] | Chr10:97753182 [GRCh38] Chr10:99512939 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.62C>T (p.Ala21Val) | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000625083]|Spastic paraplegia [RCV000204398]|not specified [RCV000593305] | Chr10:97738539 [GRCh38] Chr10:99498296 [GRCh37] Chr10:10q24.2 |
benign|likely benign |
NM_001002261.3(ZFYVE27):c.805-2A>G | single nucleotide variant | not provided [RCV000234972] | Chr10:97751374 [GRCh38] Chr10:99511131 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.126C>T (p.Leu42=) | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000379322]|Spastic paraplegia [RCV000228120]|not specified [RCV000361002] | Chr10:97738603 [GRCh38] Chr10:99498360 [GRCh37] Chr10:10q24.2 |
benign|likely benign |
GRCh37/hg19 10q24.2(chr10:99435773-99590136)x3 | copy number gain | See cases [RCV000240544] | Chr10:99435773..99590136 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.516C>T (p.Arg172=) | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000369082]|Spastic paraplegia [RCV000860703] | Chr10:97748329 [GRCh38] Chr10:99508086 [GRCh37] Chr10:10q24.2 |
benign|likely benign |
NM_001385875.1(ZFYVE27):c.386G>A (p.Ser129Asn) | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000394403] | Chr10:97744846 [GRCh38] Chr10:99504603 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.1167C>A (p.Ala389=) | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000268413] | Chr10:97757719 [GRCh38] Chr10:99517476 [GRCh37] Chr10:10q24.2 |
likely benign|uncertain significance |
NM_001385875.1(ZFYVE27):c.*40A>G | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000323336]|not provided [RCV001675784] | Chr10:97759340 [GRCh38] Chr10:99519097 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.79C>G (p.Pro27Ala) | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000324523]|Spastic paraplegia [RCV000462621] | Chr10:97738556 [GRCh38] Chr10:99498313 [GRCh37] Chr10:10q24.2 |
benign|likely benign |
NM_001385875.1(ZFYVE27):c.*778C>T | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000397894] | Chr10:97760078 [GRCh38] Chr10:99519835 [GRCh37] Chr10:10q24.2 |
benign|likely benign |
NM_001385875.1(ZFYVE27):c.*413C>T | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000397939] | Chr10:97759713 [GRCh38] Chr10:99519470 [GRCh37] Chr10:10q24.2 |
benign|likely benign |
NM_001385875.1(ZFYVE27):c.*1195C>T | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000270394] | Chr10:97760495 [GRCh38] Chr10:99520252 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.*367G>A | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000349026] | Chr10:97759667 [GRCh38] Chr10:99519424 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.*1074C>G | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000399671] | Chr10:97760374 [GRCh38] Chr10:99520131 [GRCh37] Chr10:10q24.2 |
likely benign|uncertain significance |
NM_001385875.1(ZFYVE27):c.*1308A>C | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000271494] | Chr10:97760608 [GRCh38] Chr10:99520365 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.*163C>G | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000288249] | Chr10:97759463 [GRCh38] Chr10:99519220 [GRCh37] Chr10:10q24.2 |
benign|likely benign |
NM_001385875.1(ZFYVE27):c.*1148C>T | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000305583] | Chr10:97760448 [GRCh38] Chr10:99520205 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.424C>T (p.Arg142Cys) | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000350457]|Spastic paraplegia [RCV000477157] | Chr10:97744884 [GRCh38] Chr10:99504641 [GRCh37] Chr10:10q24.2 |
benign|likely benign|uncertain significance |
NM_001385875.1(ZFYVE27):c.32C>T (p.Pro11Leu) | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000377816]|Spastic paraplegia [RCV000545447] | Chr10:97738509 [GRCh38] Chr10:99498266 [GRCh37] Chr10:10q24.2 |
benign|likely benign |
NM_001385875.1(ZFYVE27):c.*163C>T | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000329253] | Chr10:97759463 [GRCh38] Chr10:99519220 [GRCh37] Chr10:10q24.2 |
benign|likely benign |
NM_001385875.1(ZFYVE27):c.456-12C>T | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000401383]|Spastic paraplegia [RCV002056162] | Chr10:97748257 [GRCh38] Chr10:99508014 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.*1310T>C | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000331149] | Chr10:97760610 [GRCh38] Chr10:99520367 [GRCh37] Chr10:10q24.2 |
benign|likely benign |
NM_001385875.1(ZFYVE27):c.522G>A (p.Leu174=) | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000401660]|Spastic paraplegia [RCV000633113] | Chr10:97748335 [GRCh38] Chr10:99508092 [GRCh37] Chr10:10q24.2 |
benign|likely benign|uncertain significance |
NM_001385875.1(ZFYVE27):c.*1411A>G | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000332285] | Chr10:97760711 [GRCh38] Chr10:99520468 [GRCh37] Chr10:10q24.2 |
likely benign|uncertain significance |
NM_001385875.1(ZFYVE27):c.*132C>T | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000382564] | Chr10:97759432 [GRCh38] Chr10:99519189 [GRCh37] Chr10:10q24.2 |
benign|likely benign |
NM_001385875.1(ZFYVE27):c.1089+3G>A | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000358387]|Spastic paraplegia [RCV000863326] | Chr10:97757314 [GRCh38] Chr10:99517071 [GRCh37] Chr10:10q24.2 |
benign|likely benign |
NM_001385875.1(ZFYVE27):c.*1379G>A | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000277304] | Chr10:97760679 [GRCh38] Chr10:99520436 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.*248T>C | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000294108]|not provided [RCV001653479] | Chr10:97759548 [GRCh38] Chr10:99519305 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.*696G>A | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000334693] | Chr10:97759996 [GRCh38] Chr10:99519753 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.876+15C>T | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000262554] | Chr10:97751477 [GRCh38] Chr10:99511234 [GRCh37] Chr10:10q24.2 |
benign|likely benign |
NM_001385875.1(ZFYVE27):c.*1472C>T | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000278817] | Chr10:97760772 [GRCh38] Chr10:99520529 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.*1150C>T | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000360341] | Chr10:97760450 [GRCh38] Chr10:99520207 [GRCh37] Chr10:10q24.2 |
benign|likely benign |
NM_001385875.1(ZFYVE27):c.508G>A (p.Ala170Thr) | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000315547] | Chr10:97748321 [GRCh38] Chr10:99508078 [GRCh37] Chr10:10q24.2 |
likely benign |
NM_001385875.1(ZFYVE27):c.*1517G>C | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000338557] | Chr10:97760817 [GRCh38] Chr10:99520574 [GRCh37] Chr10:10q24.2 |
benign|likely benign |
NM_001385875.1(ZFYVE27):c.*894G>C | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000299582] | Chr10:97760194 [GRCh38] Chr10:99519951 [GRCh37] Chr10:10q24.2 |
benign|likely benign |
NM_001385875.1(ZFYVE27):c.-1G>A | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000318508]|Spastic paraplegia [RCV000860348] | Chr10:97738477 [GRCh38] Chr10:99498234 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.1015C>T (p.Arg339Cys) | single nucleotide variant | not provided [RCV000317547] | Chr10:97753155 [GRCh38] Chr10:99512912 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.*678A>C | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000279613] | Chr10:97759978 [GRCh38] Chr10:99519735 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.242A>G (p.Asn81Ser) | single nucleotide variant | Spastic paraplegia [RCV000530724] | Chr10:97743138 [GRCh38] Chr10:99502895 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.897+1G>A | single nucleotide variant | not provided [RCV000490176] | Chr10:97752878 [GRCh38] Chr10:99512635 [GRCh37] Chr10:10q24.2 |
likely pathogenic |
NM_001385875.1(ZFYVE27):c.*223G>C | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000383554] | Chr10:97759523 [GRCh38] Chr10:99519280 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.*1283C>T | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000366072] | Chr10:97760583 [GRCh38] Chr10:99520340 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.*1340G>C | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000385685] | Chr10:97760640 [GRCh38] Chr10:99520397 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.914C>T (p.Ala305Val) | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000322386] | Chr10:97753054 [GRCh38] Chr10:99512811 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.*1450G>A | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000373361] | Chr10:97760750 [GRCh38] Chr10:99520507 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.*1229dup | duplication | Spastic paraplegia, autosomal dominant [RCV000325427] | Chr10:97760524..97760525 [GRCh38] Chr10:99520281..99520282 [GRCh37] Chr10:10q24.2 |
likely benign |
NM_001385875.1(ZFYVE27):c.797C>T (p.Pro266Leu) | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000357425] | Chr10:97750463 [GRCh38] Chr10:99510220 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.*945G>A | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV000359166] | Chr10:97760245 [GRCh38] Chr10:99520002 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.263_266del (p.Asn88fs) | deletion | not provided [RCV000513928] | Chr10:97743156..97743159 [GRCh38] Chr10:99502913..99502916 [GRCh37] Chr10:10q24.2 |
uncertain significance |
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 | copy number loss | Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] | Chr10:85557432..105804295 [GRCh37] Chr10:10q23.1-25.1 |
pathogenic|drug response |
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 | copy number gain | See cases [RCV000448750] | Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) | copy number gain | See cases [RCV000511389] | Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 | copy number gain | See cases [RCV000510972] | Chr10:93283493..135427143 [GRCh37] Chr10:10q23.32-26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 | copy number gain | See cases [RCV000510861] | Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 | copy number loss | Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] | Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3 |
drug response |
NM_001385875.1(ZFYVE27):c.995C>G (p.Ser332Cys) | single nucleotide variant | Spastic paraplegia [RCV000633013] | Chr10:97753135 [GRCh38] Chr10:99512892 [GRCh37] Chr10:10q24.2 |
uncertain significance |
GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1 | copy number loss | See cases [RCV000512315] | Chr10:93908171..101809723 [GRCh37] Chr10:10q23.32-24.2 |
pathogenic |
GRCh37/hg19 10q24.2(chr10:99476328-99552148)x1 | copy number loss | not provided [RCV000683187] | Chr10:99476328..99552148 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.415C>T (p.Arg139Cys) | single nucleotide variant | Spastic paraplegia [RCV000678473] | Chr10:97744875 [GRCh38] Chr10:99504632 [GRCh37] Chr10:10q24.2 |
uncertain significance |
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 | copy number gain | not provided [RCV000683291] | Chr10:94346520..135427143 [GRCh37] Chr10:10q23.33-26.3 |
pathogenic |
NM_001385875.1(ZFYVE27):c.157C>T (p.Pro53Ser) | single nucleotide variant | Spastic paraplegia [RCV000707739] | Chr10:97738634 [GRCh38] Chr10:99498391 [GRCh37] Chr10:10q24.2 |
likely benign|uncertain significance |
NM_001385875.1(ZFYVE27):c.557A>G (p.Tyr186Cys) | single nucleotide variant | Spastic paraplegia [RCV000691610] | Chr10:97749479 [GRCh38] Chr10:99509236 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.436G>A (p.Val146Met) | single nucleotide variant | Spastic paraplegia [RCV000688093] | Chr10:97744896 [GRCh38] Chr10:99504653 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.1151A>G (p.Lys384Arg) | single nucleotide variant | Spastic paraplegia [RCV000694004] | Chr10:97757703 [GRCh38] Chr10:99517460 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.1236A>G (p.Ter412Trp) | single nucleotide variant | Spastic paraplegia [RCV000696484] | Chr10:97759300 [GRCh38] Chr10:99519057 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.998G>A (p.Arg333Gln) | single nucleotide variant | Spastic paraplegia [RCV000696986] | Chr10:97753138 [GRCh38] Chr10:99512895 [GRCh37] Chr10:10q24.2 |
uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 | copy number gain | not provided [RCV000749465] | Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 | copy number gain | not provided [RCV000749464] | Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_001385875.1(ZFYVE27):c.1172-92G>C | single nucleotide variant | not provided [RCV001611453] | Chr10:97759144 [GRCh38] Chr10:99518901 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.1171+136C>A | single nucleotide variant | not provided [RCV001648918] | Chr10:97757859 [GRCh38] Chr10:99517616 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.727T>C (p.Phe243Leu) | single nucleotide variant | Spastic paraplegia [RCV000813375] | Chr10:97750393 [GRCh38] Chr10:99510150 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.238C>T (p.Leu80Phe) | single nucleotide variant | Spastic paraplegia [RCV002064426]|not provided [RCV000860627] | Chr10:97743134 [GRCh38] Chr10:99502891 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.804+1G>C | single nucleotide variant | Spastic paraplegia [RCV000812288] | Chr10:97750471 [GRCh38] Chr10:99510228 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.1159A>C (p.Met387Leu) | single nucleotide variant | Spastic paraplegia [RCV000809774] | Chr10:97757711 [GRCh38] Chr10:99517468 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.149A>G (p.Tyr50Cys) | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001104688]|Spastic paraplegia [RCV001056370]|not provided [RCV001355642] | Chr10:97738626 [GRCh38] Chr10:99498383 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.538G>A (p.Val180Ile) | single nucleotide variant | Spastic paraplegia [RCV001235360] | Chr10:97748351 [GRCh38] Chr10:99508108 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.1091G>A (p.Arg364Gln) | single nucleotide variant | Spastic paraplegia [RCV001207492] | Chr10:97757643 [GRCh38] Chr10:99517400 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.551+14C>T | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001108095] | Chr10:97748378 [GRCh38] Chr10:99508135 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.1052C>T (p.Thr351Met) | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001108098] | Chr10:97757274 [GRCh38] Chr10:99517031 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.*1534G>A | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001104882] | Chr10:97760834 [GRCh38] Chr10:99520591 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.*57C>G | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001102876] | Chr10:97759357 [GRCh38] Chr10:99519114 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.*492T>C | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001105941] | Chr10:97759792 [GRCh38] Chr10:99519549 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.*582G>C | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001105943] | Chr10:97759882 [GRCh38] Chr10:99519639 [GRCh37] Chr10:10q24.2 |
likely benign |
NM_001385875.1(ZFYVE27):c.*679A>G | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001105944] | Chr10:97759979 [GRCh38] Chr10:99519736 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.*1576A>G | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001106049] | Chr10:97760876 [GRCh38] Chr10:99520633 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.1043-67G>A | single nucleotide variant | not provided [RCV001609314] | Chr10:97757198 [GRCh38] Chr10:99516955 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.877-142T>C | single nucleotide variant | not provided [RCV001722895] | Chr10:97752715 [GRCh38] Chr10:99512472 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.665-119T>C | single nucleotide variant | not provided [RCV001675365] | Chr10:97750212 [GRCh38] Chr10:99509969 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.665-20G>T | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV002243385]|Spastic paraplegia [RCV002073150]|not provided [RCV001674157] | Chr10:97750311 [GRCh38] Chr10:99510068 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.876+210C>T | single nucleotide variant | not provided [RCV001639230] | Chr10:97751672 [GRCh38] Chr10:99511429 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.664+114T>G | single nucleotide variant | not provided [RCV001639529] | Chr10:97749700 [GRCh38] Chr10:99509457 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.1090-44A>G | single nucleotide variant | not provided [RCV001669736] | Chr10:97757598 [GRCh38] Chr10:99517355 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.1172-183C>T | single nucleotide variant | not provided [RCV001650414] | Chr10:97759053 [GRCh38] Chr10:99518810 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.37C>G (p.Leu13Val) | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001102776] | Chr10:97738514 [GRCh38] Chr10:99498271 [GRCh37] Chr10:10q24.2 |
likely benign |
NM_001385875.1(ZFYVE27):c.*983A>G | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001108170] | Chr10:97760283 [GRCh38] Chr10:99520040 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.197+8C>T | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001104689] | Chr10:97738682 [GRCh38] Chr10:99498439 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.*211T>G | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001104803] | Chr10:97759511 [GRCh38] Chr10:99519268 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.*1428A>C | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001104880] | Chr10:97760728 [GRCh38] Chr10:99520485 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.456-157T>C | single nucleotide variant | not provided [RCV001722890] | Chr10:97748112 [GRCh38] Chr10:99507869 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.804+104A>G | single nucleotide variant | not provided [RCV001722891] | Chr10:97750574 [GRCh38] Chr10:99510331 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.1172-119G>A | single nucleotide variant | not provided [RCV001722894] | Chr10:97759117 [GRCh38] Chr10:99518874 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.455+257TTCT[4] | microsatellite | not provided [RCV001677668] | Chr10:97745171..97745172 [GRCh38] Chr10:99504928..99504929 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.805-186C>T | single nucleotide variant | not provided [RCV001619626] | Chr10:97751205 [GRCh38] Chr10:99510962 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.804+57T>C | single nucleotide variant | not provided [RCV001598187] | Chr10:97750527 [GRCh38] Chr10:99510284 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.551+236A>G | single nucleotide variant | not provided [RCV001677260] | Chr10:97748600 [GRCh38] Chr10:99508357 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.455+109C>T | single nucleotide variant | not provided [RCV001669867] | Chr10:97745024 [GRCh38] Chr10:99504781 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.913G>A (p.Ala305Thr) | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001108097]|Spastic paraplegia [RCV001856443] | Chr10:97753053 [GRCh38] Chr10:99512810 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.*1211G>T | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001102977] | Chr10:97760511 [GRCh38] Chr10:99520268 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.*1442A>C | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001104881] | Chr10:97760742 [GRCh38] Chr10:99520499 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.*500C>T | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001105942] | Chr10:97759800 [GRCh38] Chr10:99519557 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.*733A>G | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001105945] | Chr10:97760033 [GRCh38] Chr10:99519790 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.805-5C>T | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001108096] | Chr10:97751386 [GRCh38] Chr10:99511143 [GRCh37] Chr10:10q24.2 |
likely benign |
NM_001385875.1(ZFYVE27):c.*1308A>G | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001102978] | Chr10:97760608 [GRCh38] Chr10:99520365 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.455+53A>G | single nucleotide variant | not provided [RCV001647685] | Chr10:97744968 [GRCh38] Chr10:99504725 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.551+287C>T | single nucleotide variant | not provided [RCV001681641] | Chr10:97748651 [GRCh38] Chr10:99508408 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.916C>T (p.Pro306Ser) | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001195764] | Chr10:97753056 [GRCh38] Chr10:99512813 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.*52C>A | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001102875] | Chr10:97759352 [GRCh38] Chr10:99519109 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.917C>T (p.Pro306Leu) | single nucleotide variant | Spastic paraplegia [RCV001037125] | Chr10:97753057 [GRCh38] Chr10:99512814 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.219C>G (p.Ser73=) | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001104690] | Chr10:97743115 [GRCh38] Chr10:99502872 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.-1-10A>G | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001102775] | Chr10:97738467 [GRCh38] Chr10:99498224 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.816G>A (p.Pro272=) | single nucleotide variant | Spastic paraplegia [RCV001070012] | Chr10:97751402 [GRCh38] Chr10:99511159 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.764A>G (p.Asp255Gly) | single nucleotide variant | Spastic paraplegia [RCV001213318] | Chr10:97750430 [GRCh38] Chr10:99510187 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.*1051T>C | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001108171] | Chr10:97760351 [GRCh38] Chr10:99520108 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.*1099A>G | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001108172] | Chr10:97760399 [GRCh38] Chr10:99520156 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.551+21C>T | single nucleotide variant | not provided [RCV001642087] | Chr10:97748385 [GRCh38] Chr10:99508142 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.541G>A (p.Val181Met) | single nucleotide variant | Spastic paraplegia [RCV001397432] | Chr10:97748354 [GRCh38] Chr10:99508111 [GRCh37] Chr10:10q24.2 |
likely benign |
NM_001385875.1(ZFYVE27):c.1064C>G (p.Ala355Gly) | single nucleotide variant | Spastic paraplegia [RCV001344023] | Chr10:97757286 [GRCh38] Chr10:99517043 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.1074A>G (p.Ser358=) | single nucleotide variant | Spastic paraplegia [RCV001474091] | Chr10:97757296 [GRCh38] Chr10:99517053 [GRCh37] Chr10:10q24.2 |
likely benign |
NM_001385875.1(ZFYVE27):c.456-220T>A | single nucleotide variant | not provided [RCV001684160] | Chr10:97748049 [GRCh38] Chr10:99507806 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.639T>C (p.Phe213=) | single nucleotide variant | Spastic paraplegia [RCV001453301] | Chr10:97749561 [GRCh38] Chr10:99509318 [GRCh37] Chr10:10q24.2 |
likely benign |
NM_001385875.1(ZFYVE27):c.909G>A (p.Glu303=) | single nucleotide variant | Spastic paraplegia [RCV001470213] | Chr10:97753049 [GRCh38] Chr10:99512806 [GRCh37] Chr10:10q24.2 |
likely benign |
NM_001385875.1(ZFYVE27):c.897+18T>G | single nucleotide variant | Hereditary spastic paraplegia 33 [RCV001770020] | Chr10:97752895 [GRCh38] Chr10:99512652 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.1022G>A (p.Arg341His) | single nucleotide variant | Spastic paraplegia [RCV001895930] | Chr10:97753162 [GRCh38] Chr10:99512919 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.680G>A (p.Arg227Lys) | single nucleotide variant | Spastic paraplegia [RCV001986112] | Chr10:97750346 [GRCh38] Chr10:99510103 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.53T>C (p.Met18Thr) | single nucleotide variant | Spastic paraplegia [RCV001917143] | Chr10:97738530 [GRCh38] Chr10:99498287 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.787G>A (p.Ala263Thr) | single nucleotide variant | Spastic paraplegia [RCV001980142] | Chr10:97750453 [GRCh38] Chr10:99510210 [GRCh37] Chr10:10q24.2 |
uncertain significance |
NM_001385875.1(ZFYVE27):c.269-16G>A | single nucleotide variant | Spastic paraplegia [RCV002104814] | Chr10:97744713 [GRCh38] Chr10:99504470 [GRCh37] Chr10:10q24.2 |
benign |
NM_001385875.1(ZFYVE27):c.717A>G (p.Glu239=) | single nucleotide variant | Spastic paraplegia [RCV002111210] | Chr10:97750383 [GRCh38] Chr10:99510140 [GRCh37] Chr10:10q24.2 |
likely benign |
NM_001385875.1(ZFYVE27):c.552-13C>A | single nucleotide variant | Spastic paraplegia [RCV002093782] | Chr10:97749461 [GRCh38] Chr10:99509218 [GRCh37] Chr10:10q24.2 |
likely benign |
NM_001385875.1(ZFYVE27):c.1038C>T (p.Asn346=) | single nucleotide variant | Spastic paraplegia [RCV002101396] | Chr10:97753178 [GRCh38] Chr10:99512935 [GRCh37] Chr10:10q24.2 |
likely benign |
NM_001385875.1(ZFYVE27):c.1172-20A>G | single nucleotide variant | Spastic paraplegia [RCV002104116] | Chr10:97759216 [GRCh38] Chr10:99518973 [GRCh37] Chr10:10q24.2 |
likely benign |
NM_001385875.1(ZFYVE27):c.340C>T (p.Arg114Trp) | single nucleotide variant | Spastic paraplegia [RCV002136377] | Chr10:97744800 [GRCh38] Chr10:99504557 [GRCh37] Chr10:10q24.2 |
likely benign |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:26559 | AgrOrtholog |
COSMIC | ZFYVE27 | COSMIC |
Ensembl Genes | ENSG00000155256 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000337993 | ENTREZGENE |
ENSP00000337993.7 | UniProtKB/Swiss-Prot | |
ENSP00000350148 | ENTREZGENE | |
ENSP00000350148.4 | UniProtKB/Swiss-Prot | |
ENSP00000353069 | ENTREZGENE | |
ENSP00000353069.3 | UniProtKB/Swiss-Prot | |
ENSP00000359642 | ENTREZGENE | |
ENSP00000359642.3 | UniProtKB/Swiss-Prot | |
ENSP00000359646 | ENTREZGENE | |
ENSP00000359646.3 | UniProtKB/Swiss-Prot | |
ENSP00000377282 | ENTREZGENE | |
ENSP00000377282.3 | UniProtKB/Swiss-Prot | |
ENSP00000409594 | ENTREZGENE | |
ENSP00000409594.2 | UniProtKB/Swiss-Prot | |
ENSP00000506975 | ENTREZGENE | |
ENSP00000506975.1 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000337540 | ENTREZGENE |
ENST00000337540.11 | UniProtKB/Swiss-Prot | |
ENST00000357540 | ENTREZGENE | |
ENST00000357540.8 | UniProtKB/Swiss-Prot | |
ENST00000359980 | ENTREZGENE | |
ENST00000359980.5 | UniProtKB/Swiss-Prot | |
ENST00000370610 | ENTREZGENE | |
ENST00000370610.7 | UniProtKB/Swiss-Prot | |
ENST00000370613 | ENTREZGENE | |
ENST00000370613.7 | UniProtKB/Swiss-Prot | |
ENST00000393677 | ENTREZGENE | |
ENST00000393677.8 | UniProtKB/Swiss-Prot | |
ENST00000423811 | ENTREZGENE | |
ENST00000423811.3 | UniProtKB/Swiss-Prot | |
ENST00000684270 | ENTREZGENE | |
ENST00000684270.1 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.30.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000155256 | GTEx |
HGNC ID | HGNC:26559 | ENTREZGENE |
Human Proteome Map | ZFYVE27 | Human Proteome Map |
InterPro | Protrudin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Znf_FYVE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Znf_FYVE-rel | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Znf_FYVE_PHD | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Znf_RING/FYVE/PHD | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:118813 | UniProtKB/Swiss-Prot |
NCBI Gene | 118813 | ENTREZGENE |
OMIM | 610243 | OMIM |
610244 | OMIM | |
PANTHER | PTHR14543 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Pfam | FYVE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA134863310 | PharmGKB |
PROSITE | ZF_FYVE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | FYVE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF57903 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A0S2Z5V0_HUMAN | UniProtKB/TrEMBL |
A0A0S2Z627_HUMAN | UniProtKB/TrEMBL | |
B7Z6J9 | ENTREZGENE, UniProtKB/TrEMBL | |
Q5T4F4 | ENTREZGENE | |
Q96M08 | ENTREZGENE | |
ZFY27_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | B7Z3S0 | UniProtKB/Swiss-Prot |
B7Z404 | UniProtKB/Swiss-Prot | |
B7Z626 | UniProtKB/Swiss-Prot | |
G8JLC3 | UniProtKB/Swiss-Prot | |
G8JLF0 | UniProtKB/Swiss-Prot | |
J3KP98 | UniProtKB/Swiss-Prot | |
Q5T4F1 | UniProtKB/Swiss-Prot | |
Q5T4F2 | UniProtKB/Swiss-Prot | |
Q5T4F3 | UniProtKB/Swiss-Prot | |
Q8N1K0 | UniProtKB/Swiss-Prot | |
Q8N6D6 | UniProtKB/Swiss-Prot | |
Q8NCA0 | UniProtKB/Swiss-Prot | |
Q8NDE4 | UniProtKB/Swiss-Prot | |
Q96M08 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-02-18 | ZFYVE27 | zinc finger FYVE-type containing 27 | zinc finger, FYVE domain containing 27 | Symbol and/or name change | 5135510 | APPROVED |