KIF5A (kinesin family member 5A) - Rat Genome Database

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Gene: KIF5A (kinesin family member 5A) Homo sapiens
Analyze
Symbol: KIF5A
Name: kinesin family member 5A
RGD ID: 1347916
HGNC Page HGNC
Description: Predicted to have ATP-dependent microtubule motor activity, plus-end-directed; kinesin binding activity; and microtubule binding activity. Predicted to be involved in several processes, including axo-dendritic transport; axon guidance; and synaptic vesicle transport. Localizes to membrane. Implicated in amyotrophic lateral sclerosis; hereditary spastic paraplegia 10; multiple sclerosis; prostate cancer; and rheumatoid arthritis. Biomarker of asbestos-related lung carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ALS25; D12S1889; KIF5A variant protein; kinesin heavy chain isoform 5A; kinesin heavy chain neuron-specific 1; kinesin, heavy chain, neuron-specific; MY050; NEIMY; neuronal kinesin heavy chain; NKHC; SPG10
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1257,550,044 - 57,586,633 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1257,546,026 - 57,586,633 (+)EnsemblGRCh38hg38GRCh38
GRCh381257,550,039 - 57,586,633 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371257,943,827 - 57,980,416 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361256,230,114 - 56,264,821 (+)NCBINCBI36hg18NCBI36
Build 341256,230,113 - 56,264,821NCBI
Celera1257,599,677 - 57,634,382 (+)NCBI
Cytogenetic Map12q13.3NCBI
HuRef1254,981,745 - 55,016,257 (+)NCBIHuRef
CHM1_11257,911,685 - 57,946,386 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Adult onset  (IAGP)
Amyotrophic lateral sclerosis  (IAGP)
Ankle clonus  (IAGP)
Apnea  (IAGP)
Ataxia  (IAGP)
Athetosis  (IAGP)
Autosomal dominant inheritance  (IAGP)
Babinski sign  (IAGP)
Cerebral visual impairment  (IAGP)
Chorea  (IAGP)
Cognitive impairment  (IAGP)
Congenital onset  (IAGP)
Delayed myelination  (IAGP)
Demyelinating peripheral neuropathy  (IAGP)
Developmental stagnation  (IAGP)
Distal lower limb amyotrophy  (IAGP)
Distal sensory impairment  (IAGP)
Dupuytren contracture  (IAGP)
Dysphagia  (IAGP)
Esophageal atresia  (IAGP)
Feeding difficulties  (IAGP)
Generalized hypotonia  (IAGP)
Hearing impairment  (IAGP)
Hyperreflexia  (IAGP)
Hyperreflexia in upper limbs  (IAGP)
Impaired distal vibration sensation  (IAGP)
Impaired vibration sensation in the lower limbs  (IAGP)
Incomplete penetrance  (IAGP)
Intellectual disability, moderate  (IAGP)
Joint stiffness  (IAGP)
Knee clonus  (IAGP)
Leg muscle stiffness  (IAGP)
Lower limb hyperreflexia  (IAGP)
Lower limb muscle weakness  (IAGP)
Lower limb spasticity  (IAGP)
Microcephaly  (IAGP)
Myoclonus  (IAGP)
Nystagmus  (IAGP)
Pallor  (IAGP)
Paresthesia  (IAGP)
Parkinsonism  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Pes cavus  (IAGP)
Progressive  (IAGP)
Progressive leukoencephalopathy  (IAGP)
Progressive pes cavus  (IAGP)
Prostate cancer  (IAGP)
Ptosis  (IAGP)
Rod-cone dystrophy  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorimotor neuropathy  (IAGP)
Soft tissue swelling of interphalangeal joints  (IAGP)
Spastic gait  (IAGP)
Spastic paraparetic gait  (IAGP)
Spastic paraplegia  (IAGP)
Spastic/hyperactive bladder  (IAGP)
Swelling of proximal interphalangeal joints  (IAGP)
Upper limb amyotrophy  (IAGP)
Upper limb spasticity  (IAGP)
Urinary bladder sphincter dysfunction  (IAGP)
Urinary incontinence  (IAGP)
Urinary urgency  (IAGP)
Varicose veins  (IAGP)
Weakness due to upper motor neuron dysfunction  (IAGP)
References

References - curated
1. Alcina A, etal., Genes Immun. 2010 Jul;11(5):439-45. doi: 10.1038/gene.2010.30. Epub 2010 May 27.
2. Baptista FI, etal., PLoS One. 2013 Jun 12;8(6):e65515. doi: 10.1371/journal.pone.0065515. Print 2013.
3. Carosi L, etal., J Neurol Neurosurg Psychiatry. 2015 Jun;86(6):702-4. doi: 10.1136/jnnp-2014-308625. Epub 2014 Oct 28.
4. Danoy P, etal., Ann Rheum Dis. 2011 Oct;70(10):1793-7. doi: 10.1136/ard.2010.144576. Epub 2011 Jul 21.
5. Fichera M, etal., Neurology. 2004 Sep 28;63(6):1108-10.
6. GOA_HUMAN data from the GO Consortium
7. Jalil SF, etal., J Rheumatol. 2013 Apr;40(4):401-7. doi: 10.3899/jrheum.121050. Epub 2013 Feb 1.
8. Karle KN, etal., Neurogenetics. 2012 May;13(2):169-79. doi: 10.1007/s10048-012-0324-y. Epub 2012 Apr 1.
9. Kuzma-Kozakiewicz M, etal., Neurodegener Dis. 2013;12(2):71-80. doi: 10.1159/000339529. Epub 2012 Sep 21.
10. Lin MY and Sheng ZH, Exp Cell Res. 2015 May 15;334(1):35-44. doi: 10.1016/j.yexcr.2015.01.004. Epub 2015 Jan 19.
11. Lindberg J, etal., Eur Urol. 2013 Apr;63(4):702-8. doi: 10.1016/j.eururo.2012.11.053. Epub 2012 Dec 5.
12. Lynch DS, etal., Eur J Hum Genet. 2016 Jun;24(6):857-63. doi: 10.1038/ejhg.2015.200. Epub 2015 Sep 16.
13. Muglia M, etal., J Neurol Sci. 2014 Aug 15;343(1-2):218-20. doi: 10.1016/j.jns.2014.05.063. Epub 2014 Jun 5.
14. Nakajima K, etal., Neuron. 2012 Dec 6;76(5):945-61. doi: 10.1016/j.neuron.2012.10.012.
15. OMIM Disease Annotation Pipeline
16. Reid E, etal., Am J Hum Genet. 2002 Nov;71(5):1189-94. Epub 2002 Sep 24.
17. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
18. RGD automated import pipeline for gene-chemical interactions
19. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
20. Schüle R, etal., J Neurol Neurosurg Psychiatry. 2008 May;79(5):584-7. doi: 10.1136/jnnp.2007.137596. Epub 2008 Feb 1.
21. Tooker BC, etal., Biomarkers. 2011 Mar;16(2):181-91. doi: 10.3109/1354750X.2010.543289. Epub 2011 Jan 14.
Additional References at PubMed
PMID:7514426   PMID:8889548   PMID:9624122   PMID:9858832   PMID:10441583   PMID:10491391   PMID:10964943   PMID:11278422   PMID:11986669   PMID:12477932   PMID:14600269   PMID:15256501  
PMID:15303970   PMID:16169070   PMID:16489470   PMID:17043677   PMID:17420921   PMID:18029348   PMID:18203753   PMID:18500496   PMID:18640125   PMID:18794853   PMID:18853458   PMID:19110536  
PMID:19525941   PMID:19644859   PMID:19674979   PMID:19913121   PMID:19946888   PMID:20049410   PMID:20109572   PMID:20219786   PMID:20301682   PMID:20386726   PMID:20439292   PMID:20444755  
PMID:20498205   PMID:20628086   PMID:20936779   PMID:21044781   PMID:21107874   PMID:21623771   PMID:21873635   PMID:21900206   PMID:22705394   PMID:22785106   PMID:22788249   PMID:22939629  
PMID:23744071   PMID:24161670   PMID:24449572   PMID:24449904   PMID:25008398   PMID:25281560   PMID:25348260   PMID:25687571   PMID:25898167   PMID:26186194   PMID:26344197   PMID:26403765  
PMID:26496610   PMID:26785938   PMID:27084214   PMID:27414745   PMID:27463701   PMID:28122263   PMID:28382308   PMID:28514442   PMID:28675297   PMID:28676645   PMID:28678816   PMID:29342275  
PMID:29566793   PMID:29845934   PMID:29892902   PMID:29908077   PMID:29954873   PMID:30021884   PMID:30217970   PMID:30301576   PMID:31267705   PMID:31354888   PMID:31391242   PMID:31422367  


Genomics

Comparative Map Data
KIF5A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1257,550,044 - 57,586,633 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1257,546,026 - 57,586,633 (+)EnsemblGRCh38hg38GRCh38
GRCh381257,550,039 - 57,586,633 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371257,943,827 - 57,980,416 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361256,230,114 - 56,264,821 (+)NCBINCBI36hg18NCBI36
Build 341256,230,113 - 56,264,821NCBI
Celera1257,599,677 - 57,634,382 (+)NCBI
Cytogenetic Map12q13.3NCBI
HuRef1254,981,745 - 55,016,257 (+)NCBIHuRef
CHM1_11257,911,685 - 57,946,386 (+)NCBICHM1_1
Kif5a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910127,061,564 - 127,102,217 (-)NCBIGRCm39mm39
GRCm39 Ensembl10127,061,565 - 127,099,217 (-)Ensembl
GRCm3810127,225,695 - 127,266,348 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10127,225,696 - 127,263,348 (-)EnsemblGRCm38mm10GRCm38
MGSCv3710126,662,751 - 126,700,419 (-)NCBIGRCm37mm9NCBIm37
MGSCv3610126,628,648 - 126,666,029 (-)NCBImm8
Celera10129,618,645 - 129,655,868 (-)NCBICelera
Cytogenetic Map10D3NCBI
cM Map1074.5NCBI
Kif5a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2763,051,894 - 63,089,024 (-)NCBI
Rnor_6.0 Ensembl770,513,343 - 70,556,827 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0770,515,832 - 70,552,897 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0770,693,375 - 70,727,047 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4767,183,575 - 67,220,766 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1767,204,304 - 67,241,496 (-)NCBI
Celera760,193,348 - 60,229,555 (-)NCBICelera
Cytogenetic Map7q22NCBI
Kif5a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554585,287,111 - 5,310,962 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554585,264,274 - 5,310,962 (+)NCBIChiLan1.0ChiLan1.0
KIF5A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11231,599,376 - 31,635,677 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1231,599,376 - 31,635,327 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01231,340,201 - 31,376,849 (-)NCBIMhudiblu_PPA_v0panPan3
KIF5A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1101,637,007 - 1,666,790 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl101,636,932 - 1,664,767 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha101,700,232 - 1,729,959 (+)NCBI
ROS_Cfam_1.0101,646,391 - 1,676,129 (+)NCBI
UMICH_Zoey_3.1101,624,071 - 1,653,916 (+)NCBI
UNSW_CanFamBas_1.0101,865,983 - 1,895,693 (+)NCBI
UU_Cfam_GSD_1.0101,990,984 - 2,020,928 (+)NCBI
Kif5a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494557,137,419 - 57,172,692 (-)NCBI
SpeTri2.0NW_0049366461,697,531 - 1,730,376 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KIF5A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl522,816,506 - 22,867,029 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1522,813,617 - 22,851,976 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
KIF5A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11153,458,795 - 53,493,801 (+)NCBI
Kif5a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462480210,375,132 - 10,409,575 (-)NCBI

Position Markers
RH103508  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371257,980,096 - 57,980,262UniSTSGRCh37
Build 361256,266,363 - 56,266,529RGDNCBI36
Celera1257,635,924 - 57,636,090RGD
Cytogenetic Map12q13.13UniSTS
HuRef1255,017,799 - 55,017,965UniSTS
GeneMap99-GB4 RH Map12278.1UniSTS
KIF5A__6516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371257,978,041 - 57,978,597UniSTSGRCh37
Build 361256,264,308 - 56,264,864RGDNCBI36
Celera1257,633,869 - 57,634,425RGD
HuRef1255,015,744 - 55,016,300UniSTS
SHGC-7473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371257,973,538 - 57,973,648UniSTSGRCh37
Build 361256,259,805 - 56,259,915RGDNCBI36
Celera1257,629,365 - 57,629,475RGD
Cytogenetic Map12q13.13UniSTS
HuRef1255,011,240 - 55,011,350UniSTS
GeneMap99-G3 RH Map122334.0UniSTS
SHGC-7474  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371257,961,264 - 57,961,378UniSTSGRCh37
Build 361256,247,531 - 56,247,645RGDNCBI36
Celera1257,617,094 - 57,617,208RGD
Cytogenetic Map12q13.13UniSTS
HuRef1254,999,057 - 54,999,171UniSTS
TNG Radiation Hybrid Map1227337.0UniSTS
GeneMap99-G3 RH Map122300.0UniSTS
D12S1889  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371257,978,030 - 57,978,265UniSTSGRCh37
Build 361256,264,297 - 56,264,532RGDNCBI36
Celera1257,633,858 - 57,634,093RGD
Cytogenetic Map12q13.13UniSTS
HuRef1255,015,733 - 55,015,968UniSTS
Stanford-G3 RH Map122358.0UniSTS
NCBI RH Map12459.6UniSTS
GeneMap99-G3 RH Map122304.0UniSTS
25471  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371257,973,554 - 57,973,757UniSTSGRCh37
Build 361256,259,821 - 56,260,024RGDNCBI36
Celera1257,629,381 - 57,629,584RGD
Cytogenetic Map12q13.13UniSTS
HuRef1255,011,256 - 55,011,459UniSTS
Stanford-G3 RH Map122375.0UniSTS
GeneMap99-G3 RH Map122321.0UniSTS
D12S2159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371257,961,261 - 57,961,382UniSTSGRCh37
Build 361256,247,528 - 56,247,649RGDNCBI36
Celera1257,617,091 - 57,617,212RGD
Cytogenetic Map12q13.13UniSTS
HuRef1254,999,054 - 54,999,175UniSTS
TNG Radiation Hybrid Map1227333.0UniSTS
Stanford-G3 RH Map122388.0UniSTS
NCBI RH Map12463.1UniSTS
GeneMap99-G3 RH Map122334.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1708
Count of miRNA genes:832
Interacting mature miRNAs:972
Transcripts:ENST00000286452, ENST00000455537, ENST00000552227
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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
High 1 386
Medium 232 67 317 4 45 4 534 31 3037 6 188 71 3 1 361
Low 2002 1540 828 208 757 72 1939 1095 308 176 1112 1103 139 492 1292 1
Below cutoff 173 1373 467 299 1089 278 1841 1058 2 186 141 411 31 710 1131 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB210045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB290174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF063608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL118561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL707807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM930000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB243285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U06698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000286452   ⟹   ENSP00000286452
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,550,044 - 57,584,648 (+)Ensembl
RefSeq Acc Id: ENST00000455537   ⟹   ENSP00000408979
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,550,044 - 57,586,633 (+)Ensembl
RefSeq Acc Id: ENST00000552227
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,581,678 - 57,582,874 (+)Ensembl
RefSeq Acc Id: ENST00000674619   ⟹   ENSP00000502270
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,550,027 - 57,586,630 (+)Ensembl
RefSeq Acc Id: ENST00000674653
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,571,321 - 57,571,609 (+)Ensembl
RefSeq Acc Id: ENST00000674776   ⟹   ENSP00000502434
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,578,238 - 57,581,568 (+)Ensembl
RefSeq Acc Id: ENST00000674858   ⟹   ENSP00000502170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,583,101 - 57,583,506 (+)Ensembl
RefSeq Acc Id: ENST00000674980   ⟹   ENSP00000501935
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,583,101 - 57,586,633 (+)Ensembl
RefSeq Acc Id: ENST00000675023   ⟹   ENSP00000502553
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,550,044 - 57,563,526 (+)Ensembl
RefSeq Acc Id: ENST00000675201
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,582,602 - 57,583,215 (+)Ensembl
RefSeq Acc Id: ENST00000675216   ⟹   ENSP00000502608
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,550,044 - 57,563,693 (+)Ensembl
RefSeq Acc Id: ENST00000675299   ⟹   ENSP00000501888
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,575,084 - 57,576,862 (+)Ensembl
RefSeq Acc Id: ENST00000675397
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,576,793 - 57,579,434 (+)Ensembl
RefSeq Acc Id: ENST00000675433   ⟹   ENSP00000502122
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,583,101 - 57,586,633 (+)Ensembl
RefSeq Acc Id: ENST00000675629   ⟹   ENSP00000502531
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,572,580 - 57,575,272 (+)Ensembl
RefSeq Acc Id: ENST00000675634   ⟹   ENSP00000502231
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,580,956 - 57,581,568 (+)Ensembl
RefSeq Acc Id: ENST00000675697   ⟹   ENSP00000501809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,581,870 - 57,584,648 (+)Ensembl
RefSeq Acc Id: ENST00000675737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,581,014 - 57,585,856 (+)Ensembl
RefSeq Acc Id: ENST00000675866   ⟹   ENSP00000502341
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,582,602 - 57,584,648 (+)Ensembl
RefSeq Acc Id: ENST00000675882
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,569,580 - 57,586,424 (+)Ensembl
RefSeq Acc Id: ENST00000675907   ⟹   ENSP00000502360
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,578,238 - 57,581,172 (+)Ensembl
RefSeq Acc Id: ENST00000675929
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,572,141 - 57,585,339 (+)Ensembl
RefSeq Acc Id: ENST00000675984
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,571,769 - 57,579,847 (+)Ensembl
RefSeq Acc Id: ENST00000676055   ⟹   ENSP00000501739
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,581,870 - 57,582,629 (+)Ensembl
RefSeq Acc Id: ENST00000676081
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,569,291 - 57,579,885 (+)Ensembl
RefSeq Acc Id: ENST00000676242
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,572,061 - 57,572,726 (+)Ensembl
RefSeq Acc Id: ENST00000676250   ⟹   ENSP00000501749
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,546,026 - 57,564,212 (+)Ensembl
RefSeq Acc Id: ENST00000676265
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,582,602 - 57,583,215 (+)Ensembl
RefSeq Acc Id: ENST00000676352   ⟹   ENSP00000501978
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,572,061 - 57,575,272 (+)Ensembl
RefSeq Acc Id: ENST00000676359   ⟹   ENSP00000502609
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,550,044 - 57,564,212 (+)Ensembl
RefSeq Acc Id: ENST00000676437   ⟹   ENSP00000502358
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,581,936 - 57,585,898 (+)Ensembl
RefSeq Acc Id: ENST00000676457   ⟹   ENSP00000501588
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,550,105 - 57,586,592 (+)Ensembl
RefSeq Acc Id: NM_001354705   ⟹   NP_001341634
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,550,044 - 57,586,633 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004984   ⟹   NP_004975
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,550,044 - 57,586,633 (+)NCBI
GRCh371257,943,812 - 57,980,416 (+)NCBI
Build 361256,230,114 - 56,264,821 (+)NCBI Archive
HuRef1254,981,745 - 55,016,257 (+)ENTREZGENE
CHM1_11257,911,685 - 57,946,386 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002957324
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,550,039 - 57,586,633 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004975   ⟸   NM_004984
- Peptide Label: isoform 1
- UniProtKB: Q12840 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001341634   ⟸   NM_001354705
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: ENSP00000408979   ⟸   ENST00000455537
RefSeq Acc Id: ENSP00000286452   ⟸   ENST00000286452
RefSeq Acc Id: ENSP00000501935   ⟸   ENST00000674980
RefSeq Acc Id: ENSP00000502170   ⟸   ENST00000674858
RefSeq Acc Id: ENSP00000502434   ⟸   ENST00000674776
RefSeq Acc Id: ENSP00000502270   ⟸   ENST00000674619
RefSeq Acc Id: ENSP00000501809   ⟸   ENST00000675697
RefSeq Acc Id: ENSP00000502231   ⟸   ENST00000675634
RefSeq Acc Id: ENSP00000502531   ⟸   ENST00000675629
RefSeq Acc Id: ENSP00000502122   ⟸   ENST00000675433
RefSeq Acc Id: ENSP00000502360   ⟸   ENST00000675907
RefSeq Acc Id: ENSP00000502341   ⟸   ENST00000675866
RefSeq Acc Id: ENSP00000502608   ⟸   ENST00000675216
RefSeq Acc Id: ENSP00000501888   ⟸   ENST00000675299
RefSeq Acc Id: ENSP00000502553   ⟸   ENST00000675023
RefSeq Acc Id: ENSP00000501749   ⟸   ENST00000676250
RefSeq Acc Id: ENSP00000501739   ⟸   ENST00000676055
RefSeq Acc Id: ENSP00000502358   ⟸   ENST00000676437
RefSeq Acc Id: ENSP00000501588   ⟸   ENST00000676457
RefSeq Acc Id: ENSP00000501978   ⟸   ENST00000676352
RefSeq Acc Id: ENSP00000502609   ⟸   ENST00000676359
Protein Domains
Kinesin motor

Promoters
RGD ID:6789707
Promoter ID:HG_KWN:15985
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000286452
Position:
Human AssemblyChrPosition (strand)Source
Build 361256,229,936 - 56,230,436 (+)MPROMDB
RGD ID:7224569
Promoter ID:EPDNEW_H18031
Type:initiation region
Name:KIF5A_1
Description:kinesin family member 5A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,550,044 - 57,550,104EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004984.4(KIF5A):c.833C>T (p.Pro278Leu) single nucleotide variant Hereditary spastic paraplegia [RCV000516067] Chr12:57569269 [GRCh38]
Chr12:57963052 [GRCh37]
Chr12:12q13.3
likely pathogenic
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp) single nucleotide variant Hereditary spastic paraplegia [RCV000516107]|Spastic paraplegia [RCV000801216] Chr12:57567514 [GRCh38]
Chr12:57961297 [GRCh37]
Chr12:12q13.3
pathogenic
NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000030758]|Spastic paraplegia [RCV000205648]|not provided [RCV000756292] Chr12:57568999 [GRCh38]
Chr12:57962782 [GRCh37]
Chr12:12q13.3
pathogenic|likely pathogenic
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000030759]|not provided [RCV000498777] Chr12:57576825 [GRCh38]
Chr12:57970608 [GRCh37]
Chr12:12q13.3
pathogenic|uncertain significance
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000030760]|Myoclonus, intractable, neonatal [RCV001196631]|Spastic paraplegia [RCV000168349] Chr12:57567515 [GRCh38]
Chr12:57961298 [GRCh37]
Chr12:12q13.3
pathogenic|likely pathogenic
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000030761]|Hereditary spastic paraplegia [RCV000515919]|Spastic paraplegia [RCV001061322]|not provided [RCV001268862]|not specified [RCV000516550] Chr12:57569275 [GRCh38]
Chr12:57963058 [GRCh37]
Chr12:12q13.3
pathogenic|uncertain significance
NM_004984.4(KIF5A):c.704G>A (p.Gly235Glu) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000030762] Chr12:57567608 [GRCh38]
Chr12:57961391 [GRCh37]
Chr12:12q13.3
pathogenic
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000007210]|Spastic paraplegia [RCV000534416]|not provided [RCV000518461] Chr12:57569263 [GRCh38]
Chr12:57963046 [GRCh37]
Chr12:12q13.3
pathogenic|likely pathogenic
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000007211]|Spastic paraplegia [RCV001066186]|not specified [RCV001175553] Chr12:57569648 [GRCh38]
Chr12:57963431 [GRCh37]
Chr12:12q13.3
pathogenic|uncertain significance
NM_004984.4(KIF5A):c.767A>G (p.Asn256Ser) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000007208] Chr12:57569015 [GRCh38]
Chr12:57962798 [GRCh37]
Chr12:12q13.3
pathogenic
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000007209]|not provided [RCV000993045] Chr12:57569274 [GRCh38]
Chr12:57963057 [GRCh37]
Chr12:12q13.3
pathogenic|likely pathogenic
NM_004984.4(KIF5A):c.2590C>T (p.Arg864Ter) single nucleotide variant Myoclonus, intractable, neonatal [RCV001331328] Chr12:57581007 [GRCh38]
Chr12:57974790 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.572G>A (p.Arg191His) single nucleotide variant Hereditary spastic paraplegia [RCV000516106] Chr12:57567196 [GRCh38]
Chr12:57960979 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.857G>C (p.Arg286Thr) single nucleotide variant Spastic paraplegia [RCV000549214] Chr12:57569293 [GRCh38]
Chr12:57963076 [GRCh37]
Chr12:12q13.3
uncertain significance
GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1 copy number loss See cases [RCV000052813] Chr12:57013355..63042498 [GRCh38]
Chr12:57407139..63436278 [GRCh37]
Chr12:55693406..61722545 [NCBI36]
Chr12:12q13.3-14.2
pathogenic
GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1 copy number loss See cases [RCV000052814] Chr12:57041158..60273934 [GRCh38]
Chr12:57434942..60667715 [GRCh37]
Chr12:55721209..58953982 [NCBI36]
Chr12:12q13.3-14.1
pathogenic
NM_004984.2(KIF5A):c.931G>A (p.Asp311Asn) single nucleotide variant Malignant melanoma [RCV000070138] Chr12:57569367 [GRCh38]
Chr12:57963150 [GRCh37]
Chr12:56249417 [NCBI36]
Chr12:12q13.3
not provided
NM_004984.2(KIF5A):c.1032G>A (p.Lys344=) single nucleotide variant Malignant melanoma [RCV000070139] Chr12:57569598 [GRCh38]
Chr12:57963381 [GRCh37]
Chr12:56249648 [NCBI36]
Chr12:12q13.3
not provided
NM_004984.2(KIF5A):c.1068G>A (p.Gln356=) single nucleotide variant Malignant melanoma [RCV000070140] Chr12:57569634 [GRCh38]
Chr12:57963417 [GRCh37]
Chr12:56249684 [NCBI36]
Chr12:12q13.3
not provided
NM_004984.2(KIF5A):c.1215C>T (p.Ile405=) single nucleotide variant Malignant melanoma [RCV000070141] Chr12:57570084 [GRCh38]
Chr12:57963867 [GRCh37]
Chr12:56250134 [NCBI36]
Chr12:12q13.3
not provided
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000389116]|Spastic paraplegia [RCV001084410]|not provided [RCV000522245]|not specified [RCV001287992] Chr12:57576834 [GRCh38]
Chr12:57970617 [GRCh37]
Chr12:56256884 [NCBI36]
Chr12:12q13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_004984.2(KIF5A):c.2674C>T (p.Arg892Trp) single nucleotide variant Malignant melanoma [RCV000070143] Chr12:57581091 [GRCh38]
Chr12:57974874 [GRCh37]
Chr12:56261141 [NCBI36]
Chr12:12q13.3
not provided
NM_004984.2(KIF5A):c.2726C>T (p.Ser909Leu) single nucleotide variant Malignant melanoma [RCV000070144] Chr12:57581143 [GRCh38]
Chr12:57974926 [GRCh37]
Chr12:56261193 [NCBI36]
Chr12:12q13.3
not provided
NM_004984.2(KIF5A):c.1678G>A (p.Glu560Lys) single nucleotide variant Malignant melanoma [RCV000062571] Chr12:57572688 [GRCh38]
Chr12:57966471 [GRCh37]
Chr12:56252738 [NCBI36]
Chr12:12q13.3
not provided
NM_004984.4(KIF5A):c.1063G>T (p.Ala355Ser) single nucleotide variant Myoclonus, intractable, neonatal [RCV001331326] Chr12:57569629 [GRCh38]
Chr12:57963412 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1293+9G>A single nucleotide variant Hereditary spastic paraplegia 10 [RCV000323193]|Spastic paraplegia [RCV000197673]|none provided [RCV001286411]|not specified [RCV000174337] Chr12:57570171 [GRCh38]
Chr12:57963954 [GRCh37]
Chr12:12q13.3
benign|likely benign
NM_004984.4(KIF5A):c.694G>A (p.Asp232Asn) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000149510] Chr12:57567598 [GRCh38]
Chr12:57961381 [GRCh37]
Chr12:12q13.3
pathogenic|not provided
NM_004984.4(KIF5A):c.2492C>T (p.Ser831Phe) single nucleotide variant Malignant tumor of prostate [RCV000149164] Chr12:57578296 [GRCh38]
Chr12:57972079 [GRCh37]
Chr12:12q13.3
uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000625287]|Spastic paraplegia [RCV000755289]|none provided [RCV001283576]|not specified [RCV000418457] Chr12:57581428 [GRCh38]
Chr12:57975211 [GRCh37]
Chr12:12q13.3
benign|likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_004984.4(KIF5A):c.2199-4G>A single nucleotide variant Hereditary spastic paraplegia 10 [RCV000280047]|Myoclonus, intractable, neonatal [RCV001196525]|Spastic paraplegia [RCV000205926]|not specified [RCV000431884] Chr12:57576757 [GRCh38]
Chr12:57970540 [GRCh37]
Chr12:12q13.3
benign|likely benign
NM_004984.4(KIF5A):c.714+8G>A single nucleotide variant Hereditary spastic paraplegia 10 [RCV000366452]|Spastic paraplegia [RCV000206134]|none provided [RCV001286752]|not specified [RCV000430803] Chr12:57567626 [GRCh38]
Chr12:57961409 [GRCh37]
Chr12:12q13.3
benign|likely benign
NM_004984.4(KIF5A):c.129+9C>T single nucleotide variant Hereditary spastic paraplegia 10 [RCV000281618]|Spastic paraplegia [RCV000203713]|not specified [RCV000608205] Chr12:57550409 [GRCh38]
Chr12:57944192 [GRCh37]
Chr12:12q13.3
likely benign|uncertain significance
NM_004984.4(KIF5A):c.2734C>T (p.Arg912Trp) single nucleotide variant not specified [RCV000756291] Chr12:57581151 [GRCh38]
Chr12:57974934 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.868G>C (p.Asp290His) single nucleotide variant Hereditary spastic paraplegia [RCV000515861] Chr12:57569304 [GRCh38]
Chr12:57963087 [GRCh37]
Chr12:12q13.3
likely pathogenic
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000362839]|Spastic paraplegia [RCV000229098]|not specified [RCV000600940] Chr12:57569671 [GRCh38]
Chr12:57963454 [GRCh37]
Chr12:12q13.3
benign|likely benign|uncertain significance
NM_004984.4(KIF5A):c.714+9T>C single nucleotide variant not provided [RCV000229480] Chr12:57567627 [GRCh38]
Chr12:57961410 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.2412C>T (p.Asp804=) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000294879]|Spastic paraplegia [RCV000231949]|not specified [RCV000728519] Chr12:57578059 [GRCh38]
Chr12:57971842 [GRCh37]
Chr12:12q13.3
benign|likely benign|uncertain significance
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) single nucleotide variant Amyotrophic lateral sclerosis [RCV001260204]|Hereditary spastic paraplegia 10 [RCV000625002]|Spastic paraplegia [RCV001081669]|none provided [RCV001282972]|not provided [RCV000713410]|not specified [RCV000424199] Chr12:57581917 [GRCh38]
Chr12:57975700 [GRCh37]
Chr12:12q13.3
benign|likely benign|uncertain significance
NM_004984.4(KIF5A):c.341G>A (p.Arg114Gln) single nucleotide variant not provided [RCV000756293] Chr12:57564157 [GRCh38]
Chr12:57957940 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2006C>A (p.Ala669Asp) single nucleotide variant not provided [RCV000235514] Chr12:57575740 [GRCh38]
Chr12:57969523 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.598G>A (p.Glu200Lys) single nucleotide variant not provided [RCV000235813] Chr12:57567502 [GRCh38]
Chr12:57961285 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2174A>C (p.Gln725Pro) single nucleotide variant not provided [RCV000236020] Chr12:57576354 [GRCh38]
Chr12:57970137 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2162T>G (p.Ile721Ser) single nucleotide variant not provided [RCV000236112] Chr12:57576342 [GRCh38]
Chr12:57970125 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1283T>G (p.Leu428Arg) single nucleotide variant not provided [RCV000236671] Chr12:57570152 [GRCh38]
Chr12:57963935 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1866C>T (p.Thr622=) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000264770] Chr12:57575233 [GRCh38]
Chr12:57969016 [GRCh37]
Chr12:12q13.3
likely benign|uncertain significance
NM_004984.4(KIF5A):c.1176G>A (p.Glu392=) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000268148]|Spastic paraplegia [RCV000471988]|none provided [RCV001285402]|not specified [RCV000610842] Chr12:57570045 [GRCh38]
Chr12:57963828 [GRCh37]
Chr12:12q13.3
benign|likely benign
NM_004984.4(KIF5A):c.968+12G>C single nucleotide variant Hereditary spastic paraplegia 10 [RCV000271964] Chr12:57569416 [GRCh38]
Chr12:57963199 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000625001]|Spastic paraplegia [RCV000860656]|none provided [RCV001284883]|not specified [RCV000595607] Chr12:57581498 [GRCh38]
Chr12:57975281 [GRCh37]
Chr12:12q13.3
benign|likely benign
NM_004984.4(KIF5A):c.396+14G>A single nucleotide variant Hereditary spastic paraplegia 10 [RCV000351591]|not specified [RCV000435916] Chr12:57564226 [GRCh38]
Chr12:57958009 [GRCh37]
Chr12:12q13.3
benign|likely benign
NM_004984.4(KIF5A):c.*163C>T single nucleotide variant Hereditary spastic paraplegia 10 [RCV000354465] Chr12:57584344 [GRCh38]
Chr12:57978127 [GRCh37]
Chr12:12q13.3
benign|likely benign
NM_004984.4(KIF5A):c.566C>T (p.Ser189Leu) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000311827]|Spastic paraplegia [RCV001337471] Chr12:57567190 [GRCh38]
Chr12:57960973 [GRCh37]
Chr12:12q13.3
likely benign|uncertain significance
NM_004984.4(KIF5A):c.2994A>G (p.Gly998=) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000357841] Chr12:57582603 [GRCh38]
Chr12:57976386 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.*326G>T single nucleotide variant Hereditary spastic paraplegia 10 [RCV000292786] Chr12:57584507 [GRCh38]
Chr12:57978290 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.*170T>A single nucleotide variant Hereditary spastic paraplegia 10 [RCV000277566] Chr12:57584351 [GRCh38]
Chr12:57978134 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000361512]|Spastic paraplegia [RCV001201559] Chr12:57581540 [GRCh38]
Chr12:57975323 [GRCh37]
Chr12:12q13.3
likely benign|uncertain significance
NM_004984.4(KIF5A):c.471C>T (p.His157=) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000390969]|Spastic paraplegia [RCV000860876]|not specified [RCV000616873] Chr12:57564943 [GRCh38]
Chr12:57958726 [GRCh37]
Chr12:12q13.3
benign|likely benign|uncertain significance
NM_004984.4(KIF5A):c.3068T>G (p.Phe1023Cys) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000263091] Chr12:57583148 [GRCh38]
Chr12:57976931 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000319934]|Spastic paraplegia [RCV001306129]|none provided [RCV001287338] Chr12:57575666 [GRCh38]
Chr12:57969449 [GRCh37]
Chr12:12q13.3
likely benign|uncertain significance
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile) single nucleotide variant Amyotrophic lateral sclerosis [RCV001260220]|Hereditary spastic paraplegia 10 [RCV000391548]|Spastic paraplegia [RCV001039954]|not provided [RCV000994942]|not specified [RCV000611837] Chr12:57581887 [GRCh38]
Chr12:57975670 [GRCh37]
Chr12:12q13.3
likely benign|uncertain significance
NM_004984.4(KIF5A):c.2838C>T (p.Tyr946=) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000391555]|not provided [RCV000869040] Chr12:57581497 [GRCh38]
Chr12:57975280 [GRCh37]
Chr12:12q13.3
likely benign|uncertain significance
NM_004984.4(KIF5A):c.2775C>A (p.Gly925=) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000345953]|not specified [RCV000436053] Chr12:57581434 [GRCh38]
Chr12:57975217 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.2418G>A (p.Thr806=) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000349829]|Spastic paraplegia [RCV000862050]|not specified [RCV000425452] Chr12:57578065 [GRCh38]
Chr12:57971848 [GRCh37]
Chr12:12q13.3
benign|likely benign
NM_004984.4(KIF5A):c.2957C>G (p.Pro986Arg) single nucleotide variant Spastic paraplegia [RCV001067408]|not specified [RCV000313010] Chr12:57581917 [GRCh38]
Chr12:57975700 [GRCh37]
Chr12:12q13.3
likely benign|uncertain significance
NM_004984.4(KIF5A):c.2040G>A (p.Val680=) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000374475]|Spastic paraplegia [RCV000545988]|not specified [RCV000517388] Chr12:57576103 [GRCh38]
Chr12:57969886 [GRCh37]
Chr12:12q13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_004984.4(KIF5A):c.292-5G>A single nucleotide variant Hereditary spastic paraplegia 10 [RCV000400107]|Spastic paraplegia [RCV000868475] Chr12:57564103 [GRCh38]
Chr12:57957886 [GRCh37]
Chr12:12q13.3
benign|likely benign
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) single nucleotide variant Hereditary spastic paraplegia 10 [RCV001114823]|Spastic paraplegia [RCV001087471]|not provided [RCV000725991]|not specified [RCV000316036] Chr12:57570019 [GRCh38]
Chr12:57963802 [GRCh37]
Chr12:12q13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004984.4(KIF5A):c.2478A>C (p.Gln826His) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000401393] Chr12:57578282 [GRCh38]
Chr12:57972065 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1389C>T (p.Asn463=) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000377805]|Spastic paraplegia [RCV000868285] Chr12:57572087 [GRCh38]
Chr12:57965870 [GRCh37]
Chr12:12q13.3
likely benign|uncertain significance
NM_004984.4(KIF5A):c.1372T>G (p.Ser458Ala) single nucleotide variant not provided [RCV000287601] Chr12:57572070 [GRCh38]
Chr12:57965853 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2271C>T (p.His757=) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000334627] Chr12:57576833 [GRCh38]
Chr12:57970616 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.292-14C>A single nucleotide variant Hereditary spastic paraplegia 10 [RCV000336615] Chr12:57564094 [GRCh38]
Chr12:57957877 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.396+13C>T single nucleotide variant Hereditary spastic paraplegia 10 [RCV000315550] Chr12:57564225 [GRCh38]
Chr12:57958008 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.*326G>C single nucleotide variant Hereditary spastic paraplegia 10 [RCV000387084] Chr12:57584507 [GRCh38]
Chr12:57978290 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.927T>C (p.Tyr309=) single nucleotide variant not provided [RCV000298842] Chr12:57569363 [GRCh38]
Chr12:57963146 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.36+5C>T single nucleotide variant Hereditary spastic paraplegia 10 [RCV000318286]|not specified [RCV000422563] Chr12:57583220 [GRCh38]
Chr12:57977003 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.1842G>C (p.Glu614Asp) single nucleotide variant not provided [RCV000489143] Chr12:57575209 [GRCh38]
Chr12:57968992 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1717-6C>T single nucleotide variant not provided [RCV000487731] Chr12:57575078 [GRCh38]
Chr12:57968861 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1191C>T (p.Thr397=) single nucleotide variant not provided [RCV000488315] Chr12:57570060 [GRCh38]
Chr12:57963843 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2803C>T (p.Pro935Ser) single nucleotide variant not provided [RCV000490061] Chr12:57581462 [GRCh38]
Chr12:57975245 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.*422_*425GCAC[4] microsatellite Spastic paraplegia, autosomal dominant [RCV000329226] Chr12:57584599..57584600 [GRCh38]
Chr12:57978382..57978383 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.*317C>T single nucleotide variant Hereditary spastic paraplegia 10 [RCV000332613] Chr12:57584498 [GRCh38]
Chr12:57978281 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.*422_*425GCAC[2] microsatellite Spastic paraplegia, autosomal dominant [RCV000383830] Chr12:57584600..57584603 [GRCh38]
Chr12:57978383..57978386 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.-193G>A single nucleotide variant Spastic paraplegia, autosomal dominant [RCV000385178] Chr12:57550079 [GRCh38]
Chr12:57943862 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1079T>C (p.Ile360Thr) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000308405] Chr12:57569645 [GRCh38]
Chr12:57963428 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.*435C>T single nucleotide variant Hereditary spastic paraplegia 10 [RCV000289455] Chr12:57584616 [GRCh38]
Chr12:57978399 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.*492A>T single nucleotide variant Hereditary spastic paraplegia 10 [RCV000344388] Chr12:57584673 [GRCh38]
Chr12:57978456 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.3019A>G (p.Arg1007Gly) single nucleotide variant Amyotrophic lateral sclerosis, susceptibility to, 25 [RCV000598752] Chr12:57582628 [GRCh38]
Chr12:57976411 [GRCh37]
Chr12:12q13.3
risk factor
NM_004984.4(KIF5A):c.1735G>A (p.Ala579Thr) single nucleotide variant not provided [RCV000592755] Chr12:57575102 [GRCh38]
Chr12:57968885 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1762C>T (p.Arg588Ter) single nucleotide variant Spastic paraplegia [RCV001325976]|not provided [RCV000599044] Chr12:57575129 [GRCh38]
Chr12:57968912 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2993-3C>T single nucleotide variant Amyotrophic lateral sclerosis, susceptibility to, 25 [RCV000598707] Chr12:57582599 [GRCh38]
Chr12:57976382 [GRCh37]
Chr12:12q13.3
risk factor
NM_004984.4(KIF5A):c.3020+2T>A single nucleotide variant Amyotrophic lateral sclerosis, susceptibility to, 25 [RCV000599212] Chr12:57582631 [GRCh38]
Chr12:57976414 [GRCh37]
Chr12:12q13.3
risk factor
NM_004984.4(KIF5A):c.1849C>T (p.Arg617Cys) single nucleotide variant not provided [RCV000521501] Chr12:57575216 [GRCh38]
Chr12:57968999 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.3020+1G>A single nucleotide variant Amyotrophic lateral sclerosis, susceptibility to, 25 [RCV000599583] Chr12:57582630 [GRCh38]
Chr12:57976413 [GRCh37]
Chr12:12q13.3
risk factor
NM_004984.4(KIF5A):c.605G>C (p.Ser202Thr) single nucleotide variant not provided [RCV000415739] Chr12:57567509 [GRCh38]
Chr12:57961292 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.750C>T (p.Asp250=) single nucleotide variant Spastic paraplegia [RCV001086019]|not provided [RCV000416236]|not specified [RCV000616897] Chr12:57568998 [GRCh38]
Chr12:57962781 [GRCh37]
Chr12:12q13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004984.4(KIF5A):c.2854del (p.Gln952fs) deletion Myoclonus, intractable, neonatal [RCV000412536] Chr12:57581512 [GRCh38]
Chr12:57975295 [GRCh37]
Chr12:12q13.3
pathogenic
KIF5A, 1-BP DEL, 2934G deletion Myoclonus, intractable, neonatal [RCV000412595] Chr12:12q13.3 pathogenic
NM_004984.4(KIF5A):c.2922del (p.Cys975fs) deletion Myoclonus, intractable, neonatal [RCV000412656] Chr12:57581881 [GRCh38]
Chr12:57975664 [GRCh37]
Chr12:12q13.3
pathogenic
NM_004984.4(KIF5A):c.2993-6C>T single nucleotide variant not specified [RCV000431230] Chr12:57582596 [GRCh38]
Chr12:57976379 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.531G>A (p.Pro177=) single nucleotide variant not provided [RCV000713411] Chr12:57567155 [GRCh38]
Chr12:57960938 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.2539-13G>A single nucleotide variant not specified [RCV000428050] Chr12:57580943 [GRCh38]
Chr12:57974726 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.446-18T>C single nucleotide variant not specified [RCV000432062] Chr12:57564900 [GRCh38]
Chr12:57958683 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.847A>G (p.Lys283Glu) single nucleotide variant not provided [RCV000422449] Chr12:57569283 [GRCh38]
Chr12:57963066 [GRCh37]
Chr12:12q13.3
likely pathogenic
NM_004984.4(KIF5A):c.820-19G>T single nucleotide variant not provided [RCV000513769]|not specified [RCV000439413] Chr12:57569237 [GRCh38]
Chr12:57963020 [GRCh37]
Chr12:12q13.3
benign|likely benign
NM_004984.4(KIF5A):c.2023+18C>T single nucleotide variant none provided [RCV001282522]|not specified [RCV000439493] Chr12:57575775 [GRCh38]
Chr12:57969558 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.2971C>A (p.Gln991Lys) single nucleotide variant not provided [RCV000427589] Chr12:57581931 [GRCh38]
Chr12:57975714 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) single nucleotide variant Spastic paraplegia [RCV001078590]|none provided [RCV001287293]|not provided [RCV000727034]|not specified [RCV000426690] Chr12:57572117 [GRCh38]
Chr12:57965900 [GRCh37]
Chr12:12q13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004984.4(KIF5A):c.604A>C (p.Ser202Arg) single nucleotide variant not provided [RCV000436918] Chr12:57567508 [GRCh38]
Chr12:57961291 [GRCh37]
Chr12:12q13.3
likely pathogenic
NM_004984.4(KIF5A):c.2403C>T (p.Phe801=) single nucleotide variant Hereditary spastic paraplegia 10 [RCV001111515]|not specified [RCV000440930] Chr12:57578050 [GRCh38]
Chr12:57971833 [GRCh37]
Chr12:12q13.3
benign|likely benign
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp) single nucleotide variant Spastic paraplegia [RCV000464334]|not provided [RCV000713413] Chr12:57569403 [GRCh38]
Chr12:57963186 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.425A>G (p.Lys142Arg) single nucleotide variant not provided [RCV000483882] Chr12:57564488 [GRCh38]
Chr12:57958271 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.801C>T (p.Ser267=) single nucleotide variant not provided [RCV000463721] Chr12:57569049 [GRCh38]
Chr12:57962832 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.2146C>T (p.Arg716Trp) single nucleotide variant Spastic paraplegia [RCV000471143] Chr12:57576326 [GRCh38]
Chr12:57970109 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.230G>A (p.Gly77Asp) single nucleotide variant Spastic paraplegia [RCV000460120] Chr12:57563632 [GRCh38]
Chr12:57957415 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.433G>C (p.Asp145His) single nucleotide variant Spastic paraplegia [RCV000457563] Chr12:57564496 [GRCh38]
Chr12:57958279 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.3020G>A (p.Arg1007Lys) single nucleotide variant Spastic paraplegia [RCV000465321] Chr12:57582629 [GRCh38]
Chr12:57976412 [GRCh37]
Chr12:12q13.3
likely pathogenic|uncertain significance
NM_004984.4(KIF5A):c.269C>T (p.Ser90Leu) single nucleotide variant Spastic paraplegia [RCV000472975] Chr12:57563671 [GRCh38]
Chr12:57957454 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys) single nucleotide variant Hereditary spastic paraplegia 10 [RCV001114824]|Spastic paraplegia [RCV000458531]|not provided [RCV001289240] Chr12:57570133 [GRCh38]
Chr12:57963916 [GRCh37]
Chr12:12q13.3
likely benign|uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter) single nucleotide variant Spastic paraplegia [RCV001062527]|not specified [RCV000507176] Chr12:57577726 [GRCh38]
Chr12:57971509 [GRCh37]
Chr12:12q13.3
likely pathogenic|uncertain significance
NM_004984.4(KIF5A):c.799T>C (p.Ser267Pro) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000495879] Chr12:57569047 [GRCh38]
Chr12:57962830 [GRCh37]
Chr12:12q13.3
likely pathogenic
NM_004984.4(KIF5A):c.2262C>T (p.Ser754=) single nucleotide variant not specified [RCV000602559] Chr12:57576824 [GRCh38]
Chr12:57970607 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.1896C>T (p.Leu632=) single nucleotide variant not specified [RCV000609989] Chr12:57575263 [GRCh38]
Chr12:57969046 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.397-16_397-14del microsatellite not specified [RCV000616294] Chr12:57564441..57564443 [GRCh38]
Chr12:57958224..57958226 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.2718C>T (p.Tyr906=) single nucleotide variant Hereditary spastic paraplegia 10 [RCV001113506]|not specified [RCV000616819] Chr12:57581135 [GRCh38]
Chr12:57974918 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.-13G>A single nucleotide variant not specified [RCV000608220] Chr12:57550259 [GRCh38]
Chr12:57944042 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.1218G>C (p.Val406=) single nucleotide variant not specified [RCV000611378] Chr12:57570087 [GRCh38]
Chr12:57963870 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.1294-7C>T single nucleotide variant Spastic paraplegia [RCV001078893]|not provided [RCV000713409] Chr12:57571314 [GRCh38]
Chr12:57965097 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.1287C>T (p.Asp429=) single nucleotide variant not specified [RCV000603977] Chr12:57570156 [GRCh38]
Chr12:57963939 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.2655C>T (p.Gly885=) single nucleotide variant not specified [RCV000614871] Chr12:57581072 [GRCh38]
Chr12:57974855 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.861T>C (p.Ile287=) single nucleotide variant not specified [RCV000614892] Chr12:57569297 [GRCh38]
Chr12:57963080 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.292-4C>A single nucleotide variant not specified [RCV000605103] Chr12:57564104 [GRCh38]
Chr12:57957887 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.2198+19G>T single nucleotide variant not specified [RCV000607348] Chr12:57576397 [GRCh38]
Chr12:57970180 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.158T>C (p.Phe53Ser) single nucleotide variant Spastic paraplegia [RCV000633016] Chr12:57563467 [GRCh38]
Chr12:57957250 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile) single nucleotide variant Spastic paraplegia [RCV000678471] Chr12:57581950 [GRCh38]
Chr12:57975733 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.765_767CAA[1] (p.Asn256del) microsatellite Spastic paraplegia [RCV000705704] Chr12:57569013..57569015 [GRCh38]
Chr12:57962796..57962798 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.586A>G (p.Thr196Ala) single nucleotide variant Spastic paraplegia [RCV000693925]|not provided [RCV000713412] Chr12:57567210 [GRCh38]
Chr12:57960993 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2913_2914insA (p.Ala972fs) insertion Spastic paraplegia [RCV000695342] Chr12:57581873..57581874 [GRCh38]
Chr12:57975656..57975657 [GRCh37]
Chr12:12q13.3
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_004984.4(KIF5A):c.590-3C>T single nucleotide variant Spastic paraplegia [RCV001322469]|not provided [RCV001287993] Chr12:57567491 [GRCh38]
Chr12:57961274 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.574C>T (p.His192Tyr) single nucleotide variant not provided [RCV000761835] Chr12:57567198 [GRCh38]
Chr12:57960981 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.890G>A (p.Arg297Gln) single nucleotide variant Hereditary spastic paraplegia 10 [RCV001114822] Chr12:57569326 [GRCh38]
Chr12:57963109 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2301-3C>T single nucleotide variant not provided [RCV000994940] Chr12:57577710 [GRCh38]
Chr12:57971493 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2540T>A (p.Leu847Gln) single nucleotide variant not provided [RCV000994941] Chr12:57580957 [GRCh38]
Chr12:57974740 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.*14C>T single nucleotide variant Hereditary spastic paraplegia 10 [RCV001114932] Chr12:57583193 [GRCh38]
Chr12:57976976 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.802G>A (p.Ala268Thr) single nucleotide variant Spastic paraplegia [RCV001059220] Chr12:57569050 [GRCh38]
Chr12:57962833 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2157C>T (p.Asp719=) single nucleotide variant not provided [RCV000869381] Chr12:57576337 [GRCh38]
Chr12:57970120 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.1233C>T (p.Pro411=) single nucleotide variant not provided [RCV000915236] Chr12:57570102 [GRCh38]
Chr12:57963885 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.2538+8T>G single nucleotide variant Spastic paraplegia [RCV001088931]|not provided [RCV000866030] Chr12:57578350 [GRCh38]
Chr12:57972133 [GRCh37]
Chr12:12q13.3
benign|likely benign
NM_004984.4(KIF5A):c.2832C>T (p.Ile944=) single nucleotide variant Spastic paraplegia [RCV000868181] Chr12:57581491 [GRCh38]
Chr12:57975274 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.327T>G (p.Ile109Met) single nucleotide variant Spastic paraplegia [RCV001053519] Chr12:57564143 [GRCh38]
Chr12:57957926 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1362+7G>A single nucleotide variant not provided [RCV001287990] Chr12:57571396 [GRCh38]
Chr12:57965179 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.969-1G>C single nucleotide variant Spastic paraplegia [RCV001048914] Chr12:57569534 [GRCh38]
Chr12:57963317 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.121G>A (p.Val41Ile) single nucleotide variant Spastic paraplegia [RCV001036880] Chr12:57550392 [GRCh38]
Chr12:57944175 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2119C>T (p.Arg707Trp) single nucleotide variant Hereditary spastic paraplegia 10 [RCV000785115] Chr12:57576299 [GRCh38]
Chr12:57970082 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2681A>T (p.Gln894Leu) single nucleotide variant Spastic paraplegia [RCV000809354] Chr12:57581098 [GRCh38]
Chr12:57974881 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1926G>A (p.Ser642=) single nucleotide variant Hereditary spastic paraplegia 10 [RCV001109182]|Spastic paraplegia [RCV000868570] Chr12:57575660 [GRCh38]
Chr12:57969443 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.1656C>T (p.Asn552=) single nucleotide variant not provided [RCV000864164] Chr12:57572666 [GRCh38]
Chr12:57966449 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.445+7G>A single nucleotide variant not provided [RCV000917344] Chr12:57564515 [GRCh38]
Chr12:57958298 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.2004G>A (p.Leu668=) single nucleotide variant not provided [RCV000866585] Chr12:57575738 [GRCh38]
Chr12:57969521 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.261G>A (p.Gln87=) single nucleotide variant Spastic paraplegia [RCV000863264] Chr12:57563663 [GRCh38]
Chr12:57957446 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.499A>C (p.Lys167Gln) single nucleotide variant Esophageal atresia [RCV000984743] Chr12:57564971 [GRCh38]
Chr12:57958754 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2124G>A (p.Glu708=) single nucleotide variant Spastic paraplegia [RCV000983458] Chr12:57576304 [GRCh38]
Chr12:57970087 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.1236G>A (p.Glu412=) single nucleotide variant Spastic paraplegia [RCV000865610] Chr12:57570105 [GRCh38]
Chr12:57963888 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.2024-7C>T single nucleotide variant not provided [RCV000875449] Chr12:57576080 [GRCh38]
Chr12:57969863 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.2672G>A (p.Arg891His) single nucleotide variant Hereditary spastic paraplegia 10 [RCV001113505]|Spastic paraplegia [RCV000802776] Chr12:57581089 [GRCh38]
Chr12:57974872 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1241G>A (p.Arg414Gln) single nucleotide variant Spastic paraplegia [RCV000815836] Chr12:57570110 [GRCh38]
Chr12:57963893 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2656G>T (p.Ala886Ser) single nucleotide variant not provided [RCV000993044] Chr12:57581073 [GRCh38]
Chr12:57974856 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2993-217G>A single nucleotide variant not provided [RCV000843004] Chr12:57582385 [GRCh38]
Chr12:57976168 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.820-82C>T single nucleotide variant not provided [RCV000834826] Chr12:57569174 [GRCh38]
Chr12:57962957 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.2608G>T (p.Glu870Ter) single nucleotide variant Spastic paraplegia [RCV000819853] Chr12:57581025 [GRCh38]
Chr12:57974808 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.129+310C>T single nucleotide variant not provided [RCV000830617] Chr12:57550710 [GRCh38]
Chr12:57944493 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.3050A>G (p.Glu1017Gly) single nucleotide variant Spastic paraplegia [RCV000809975] Chr12:57583130 [GRCh38]
Chr12:57976913 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1569+6T>C single nucleotide variant Spastic paraplegia [RCV000792986] Chr12:57572273 [GRCh38]
Chr12:57966056 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.698T>C (p.Leu233Pro) single nucleotide variant Spastic paraplegia [RCV000817670] Chr12:57567602 [GRCh38]
Chr12:57961385 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1717-129G>A single nucleotide variant not provided [RCV000842999] Chr12:57574955 [GRCh38]
Chr12:57968738 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.445+22A>G single nucleotide variant not provided [RCV000843000] Chr12:57564530 [GRCh38]
Chr12:57958313 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.2910-83A>G single nucleotide variant not provided [RCV000843002] Chr12:57581787 [GRCh38]
Chr12:57975570 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.714+93T>C single nucleotide variant not provided [RCV000843005] Chr12:57567711 [GRCh38]
Chr12:57961494 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.36+42C>A single nucleotide variant not provided [RCV000843015] Chr12:57583257 [GRCh38]
Chr12:57977040 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.1717-152C>G single nucleotide variant not provided [RCV000843016] Chr12:57574932 [GRCh38]
Chr12:57968715 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.2953G>A (p.Gly985Ser) single nucleotide variant Hereditary spastic paraplegia 10 [RCV001114930] Chr12:57581913 [GRCh38]
Chr12:57975696 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2756-43A>C single nucleotide variant not provided [RCV000843007] Chr12:57581372 [GRCh38]
Chr12:57975155 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.714+161A>G single nucleotide variant not provided [RCV000843009] Chr12:57567779 [GRCh38]
Chr12:57961562 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.2992+175C>G single nucleotide variant not provided [RCV000843011] Chr12:57582127 [GRCh38]
Chr12:57975910 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.2539-69G>A single nucleotide variant not provided [RCV000843019] Chr12:57580887 [GRCh38]
Chr12:57974670 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.2992+218G>C single nucleotide variant not provided [RCV000843021] Chr12:57582170 [GRCh38]
Chr12:57975953 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.3020+235C>G single nucleotide variant not provided [RCV000843024] Chr12:57582864 [GRCh38]
Chr12:57976647 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.2826del (p.Glu942fs) deletion Spastic paraplegia [RCV000801570] Chr12:57581485 [GRCh38]
Chr12:57975268 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.291+15T>C single nucleotide variant not provided [RCV000827243] Chr12:57563708 [GRCh38]
Chr12:57957491 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.2993-267A>G single nucleotide variant not provided [RCV000827705] Chr12:57582335 [GRCh38]
Chr12:57976118 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.561G>A (p.Gly187=) single nucleotide variant not provided [RCV000874677] Chr12:57567185 [GRCh38]
Chr12:57960968 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.730G>C (p.Ala244Pro) single nucleotide variant Spastic paraplegia [RCV000814503] Chr12:57568978 [GRCh38]
Chr12:57962761 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2955C>T (p.Gly985=) single nucleotide variant Hereditary spastic paraplegia 10 [RCV001114931] Chr12:57581915 [GRCh38]
Chr12:57975698 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.60C>T (p.Asn20=) single nucleotide variant Spastic paraplegia [RCV000869737] Chr12:57550331 [GRCh38]
Chr12:57944114 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.820-9C>A single nucleotide variant Spastic paraplegia [RCV000869679] Chr12:57569247 [GRCh38]
Chr12:57963030 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.1407G>T (p.Glu469Asp) single nucleotide variant Spastic paraplegia [RCV001202912] Chr12:57572105 [GRCh38]
Chr12:57965888 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1163C>A (p.Ala388Asp) single nucleotide variant Spastic paraplegia [RCV001202554] Chr12:57570032 [GRCh38]
Chr12:57963815 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.872C>T (p.Ser291Phe) single nucleotide variant Spastic paraplegia [RCV001209948] Chr12:57569308 [GRCh38]
Chr12:57963091 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.3082G>A (p.Glu1028Lys) single nucleotide variant Spastic paraplegia [RCV001218414] Chr12:57583162 [GRCh38]
Chr12:57976945 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2112G>A (p.Glu704=) single nucleotide variant not provided [RCV000993043] Chr12:57576292 [GRCh38]
Chr12:57970075 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.2:c.2993del deletion Spastic paraplegia [RCV001204511] Chr12:57582601 [GRCh38]
Chr12:57976384 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.-45C>T single nucleotide variant Hereditary spastic paraplegia 10 [RCV001111423] Chr12:57550227 [GRCh38]
Chr12:57944010 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2433+10G>A single nucleotide variant Hereditary spastic paraplegia 10 [RCV001111516] Chr12:57578090 [GRCh38]
Chr12:57971873 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.698T>A (p.Leu233Gln) single nucleotide variant Hereditary spastic paraplegia 10 [RCV001250416] Chr12:57567602 [GRCh38]
Chr12:57961385 [GRCh37]
Chr12:12q13.3
likely pathogenic
NM_004984.4(KIF5A):c.*335T>G single nucleotide variant Hereditary spastic paraplegia 10 [RCV001109285] Chr12:57584516 [GRCh38]
Chr12:57978299 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1056G>T (p.Lys352Asn) single nucleotide variant Myoclonus, intractable, neonatal [RCV001197795] Chr12:57569622 [GRCh38]
Chr12:57963405 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1998T>C (p.Asp666=) single nucleotide variant not provided [RCV000931125] Chr12:57575732 [GRCh38]
Chr12:57969515 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.2247C>T (p.Tyr749=) single nucleotide variant Spastic paraplegia [RCV000873052] Chr12:57576809 [GRCh38]
Chr12:57970592 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.3024T>C (p.Ser1008=) single nucleotide variant not provided [RCV000873547] Chr12:57583104 [GRCh38]
Chr12:57976887 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.660G>A (p.Thr220=) single nucleotide variant not provided [RCV000930786] Chr12:57567564 [GRCh38]
Chr12:57961347 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.3033G>A (p.Pro1011=) single nucleotide variant not provided [RCV000865674] Chr12:57583113 [GRCh38]
Chr12:57976896 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.1570-5C>T single nucleotide variant Spastic paraplegia [RCV001214478] Chr12:57572575 [GRCh38]
Chr12:57966358 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2147G>A (p.Arg716Gln) single nucleotide variant Spastic paraplegia [RCV001244777] Chr12:57576327 [GRCh38]
Chr12:57970110 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2741A>G (p.His914Arg) single nucleotide variant Spastic paraplegia [RCV001070549] Chr12:57581158 [GRCh38]
Chr12:57974941 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.818C>G (p.Thr273Ser) single nucleotide variant Hereditary spastic paraplegia 10 [RCV001113422] Chr12:57569066 [GRCh38]
Chr12:57962849 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.899T>A (p.Met300Lys) single nucleotide variant Spastic paraplegia [RCV001206694] Chr12:57569335 [GRCh38]
Chr12:57963118 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2300C>G (p.Thr767Arg) single nucleotide variant Spastic paraplegia [RCV001210098] Chr12:57576862 [GRCh38]
Chr12:57970645 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.218-7C>G single nucleotide variant not provided [RCV000935533] Chr12:57563613 [GRCh38]
Chr12:57957396 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.785T>C (p.Leu262Pro) single nucleotide variant not provided [RCV000994937] Chr12:57569033 [GRCh38]
Chr12:57962816 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1311A>G (p.Gln437=) single nucleotide variant not provided [RCV000994938] Chr12:57571338 [GRCh38]
Chr12:57965121 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2185G>C (p.Asp729His) single nucleotide variant not provided [RCV000994939] Chr12:57576365 [GRCh38]
Chr12:57970148 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.126T>G (p.Ile42Met) single nucleotide variant Hereditary spastic paraplegia 10 [RCV001111424]|Spastic paraplegia [RCV001303301] Chr12:57550397 [GRCh38]
Chr12:57944180 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.152G>A (p.Arg51His) single nucleotide variant Hereditary spastic paraplegia 10 [RCV001111425] Chr12:57563461 [GRCh38]
Chr12:57957244 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.291+5G>A single nucleotide variant Hereditary spastic paraplegia 10 [RCV001111426] Chr12:57563698 [GRCh38]
Chr12:57957481 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2300+7G>A single nucleotide variant Hereditary spastic paraplegia 10 [RCV001111514] Chr12:57576869 [GRCh38]
Chr12:57970652 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1476G>A (p.Glu492=) single nucleotide variant Hereditary spastic paraplegia 10 [RCV001109180] Chr12:57572174 [GRCh38]
Chr12:57965957 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2024-8T>G single nucleotide variant Hereditary spastic paraplegia 10 [RCV001109183] Chr12:57576079 [GRCh38]
Chr12:57969862 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.*394A>G single nucleotide variant Hereditary spastic paraplegia 10 [RCV001111612] Chr12:57584575 [GRCh38]
Chr12:57978358 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.*425C>T single nucleotide variant Hereditary spastic paraplegia 10 [RCV001111613] Chr12:57584606 [GRCh38]
Chr12:57978389 [GRCh37]
Chr12:12q13.3
benign
NM_004984.4(KIF5A):c.*449C>T single nucleotide variant Hereditary spastic paraplegia 10 [RCV001111614] Chr12:57584630 [GRCh38]
Chr12:57978413 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2124G>T (p.Glu708Asp) single nucleotide variant not provided [RCV001093318] Chr12:57576304 [GRCh38]
Chr12:57970087 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1521G>A (p.Glu507=) single nucleotide variant not provided [RCV001093317] Chr12:57572219 [GRCh38]
Chr12:57966002 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.2005G>A (p.Ala669Thr) single nucleotide variant Demyelinating peripheral neuropathy [RCV001007474] Chr12:57575739 [GRCh38]
Chr12:57969522 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.715-9C>A single nucleotide variant Hereditary spastic paraplegia 10 [RCV001113421] Chr12:57568954 [GRCh38]
Chr12:57962737 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.502-15A>T single nucleotide variant Hereditary spastic paraplegia 10 [RCV001113420] Chr12:57567111 [GRCh38]
Chr12:57960894 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2466G>C (p.Gly822=) single nucleotide variant Hereditary spastic paraplegia 10 [RCV001113504] Chr12:57578270 [GRCh38]
Chr12:57972053 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.*86C>G single nucleotide variant Hereditary spastic paraplegia 10 [RCV001109284] Chr12:57584267 [GRCh38]
Chr12:57978050 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.178G>C (p.Glu60Gln) single nucleotide variant not provided [RCV001093316] Chr12:57563487 [GRCh38]
Chr12:57957270 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.252T>C (p.Ala84=) single nucleotide variant not provided [RCV001171889] Chr12:57563654 [GRCh38]
Chr12:57957437 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.1167G>A (p.Leu389=) single nucleotide variant not specified [RCV001000631] Chr12:57570036 [GRCh38]
Chr12:57963819 [GRCh37]
Chr12:12q13.3
likely benign
GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3 copy number gain not provided [RCV001006505] Chr12:55552371..62126304 [GRCh37]
Chr12:12q13.2-14.1
pathogenic
NM_004984.4(KIF5A):c.510T>G (p.Thr170=) single nucleotide variant not specified [RCV001002595] Chr12:57567134 [GRCh38]
Chr12:57960917 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.2740C>T (p.His914Tyr) single nucleotide variant not provided [RCV001200088] Chr12:57581157 [GRCh38]
Chr12:57974940 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.551T>C (p.Ile184Thr) single nucleotide variant Spastic paraplegia [RCV001208679] Chr12:57567175 [GRCh38]
Chr12:57960958 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.714+6G>C single nucleotide variant Spastic paraplegia [RCV001233083] Chr12:57567624 [GRCh38]
Chr12:57961407 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.484C>T (p.Arg162Trp) single nucleotide variant Spastic paraplegia [RCV001215426]|not provided [RCV001268563] Chr12:57564956 [GRCh38]
Chr12:57958739 [GRCh37]
Chr12:12q13.3
pathogenic
NM_004984.4(KIF5A):c.3020+1G>T single nucleotide variant Spastic paraplegia [RCV001037799] Chr12:57582630 [GRCh38]
Chr12:57976413 [GRCh37]
Chr12:12q13.3
likely pathogenic
NM_004984.4(KIF5A):c.1964G>A (p.Arg655Gln) single nucleotide variant Spastic paraplegia [RCV001202271] Chr12:57575698 [GRCh38]
Chr12:57969481 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1570-3C>T single nucleotide variant Hereditary spastic paraplegia 10 [RCV001109181] Chr12:57572577 [GRCh38]
Chr12:57966360 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.3005A>G (p.Asp1002Gly) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 [RCV001095391] Chr12:57582614 [GRCh38]
Chr12:57976397 [GRCh37]
Chr12:12q13.3
likely pathogenic
NM_004984.4(KIF5A):c.530C>T (p.Pro177Leu) single nucleotide variant Spastic paraplegia [RCV001215694] Chr12:57567154 [GRCh38]
Chr12:57960937 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1142G>A (p.Arg381His) single nucleotide variant Spastic paraplegia [RCV001034512] Chr12:57570011 [GRCh38]
Chr12:57963794 [GRCh37]
Chr12:12q13.3
likely benign
GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1 copy number loss not provided [RCV001006506] Chr12:57582163..59031979 [GRCh37]
Chr12:12q13.3-14.1
likely pathogenic
NM_004984.4(KIF5A):c.1503G>A (p.Lys501=) single nucleotide variant not provided [RCV001253858] Chr12:57572201 [GRCh38]
Chr12:57965984 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.2868_2870del (p.Leu957del) deletion Hereditary spastic paraplegia 10 [RCV001250992] Chr12:57581527..57581529 [GRCh38]
Chr12:57975310..57975312 [GRCh37]
Chr12:12q13.3
likely pathogenic
NM_004984.4(KIF5A):c.1378C>T (p.Arg460Ter) single nucleotide variant not provided [RCV001267900] Chr12:57572076 [GRCh38]
Chr12:57965859 [GRCh37]
Chr12:12q13.3
pathogenic
NM_004984.4(KIF5A):c.2939C>T (p.Ala980Val) single nucleotide variant Inborn genetic diseases [RCV001266188] Chr12:57581899 [GRCh38]
Chr12:57975682 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2613_2614del (p.Arg871fs) microsatellite not provided [RCV001268331] Chr12:57581025..57581026 [GRCh38]
Chr12:57974808..57974809 [GRCh37]
Chr12:12q13.3
likely pathogenic
NM_004984.4(KIF5A):c.2811del (p.Thr938fs) deletion not provided [RCV001268572] Chr12:57581470 [GRCh38]
Chr12:57975253 [GRCh37]
Chr12:12q13.3
pathogenic
NM_004984.4(KIF5A):c.2755+1G>T single nucleotide variant not provided [RCV001268588] Chr12:57581173 [GRCh38]
Chr12:57974956 [GRCh37]
Chr12:12q13.3
likely pathogenic
NM_004984.4(KIF5A):c.1636C>T (p.Arg546Ter) single nucleotide variant not provided [RCV001268732] Chr12:57572646 [GRCh38]
Chr12:57966429 [GRCh37]
Chr12:12q13.3
pathogenic
NM_004984.4(KIF5A):c.1429A>G (p.Asn477Asp) single nucleotide variant not provided [RCV001287991] Chr12:57572127 [GRCh38]
Chr12:57965910 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.832C>T (p.Pro278Ser) single nucleotide variant Myoclonus, intractable, neonatal [RCV001262254] Chr12:57569268 [GRCh38]
Chr12:57963051 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1213A>G (p.Ile405Val) single nucleotide variant Spastic paraplegia [RCV001341947] Chr12:57570082 [GRCh38]
Chr12:57963865 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1240C>T (p.Arg414Trp) single nucleotide variant Myoclonus, intractable, neonatal [RCV001333332] Chr12:57570109 [GRCh38]
Chr12:57963892 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.514C>T (p.Arg172Cys) single nucleotide variant Spastic paraplegia [RCV001325879] Chr12:57567138 [GRCh38]
Chr12:57960921 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.772T>C (p.Ser258Pro) single nucleotide variant Spastic paraplegia [RCV001337227] Chr12:57569020 [GRCh38]
Chr12:57962803 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.597T>G (p.Asn199Lys) single nucleotide variant Spastic paraplegia [RCV001316629] Chr12:57567501 [GRCh38]
Chr12:57961284 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.2183T>C (p.Ile728Thr) single nucleotide variant Spastic paraplegia [RCV001295024] Chr12:57576363 [GRCh38]
Chr12:57970146 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1390G>A (p.Glu464Lys) single nucleotide variant Spastic paraplegia [RCV001297214] Chr12:57572088 [GRCh38]
Chr12:57965871 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1710T>G (p.Ile570Met) single nucleotide variant Hereditary spastic paraplegia 10 [RCV001331327] Chr12:57572720 [GRCh38]
Chr12:57966503 [GRCh37]
Chr12:12q13.3
uncertain significance
NM_004984.4(KIF5A):c.1995C>T (p.Ser665=) single nucleotide variant not provided [RCV001310997] Chr12:57575729 [GRCh38]
Chr12:57969512 [GRCh37]
Chr12:12q13.3
likely benign
NM_004984.4(KIF5A):c.1603C>T (p.Arg535Trp) single nucleotide variant Spastic paraplegia [RCV001326525] Chr12:57572613 [GRCh38]
Chr12:57966396 [GRCh37]
Chr12:12q13.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6323 AgrOrtholog
COSMIC KIF5A COSMIC
Ensembl Genes ENSG00000155980 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000286452 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000408979 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000501588 UniProtKB/TrEMBL
  ENSP00000501739 UniProtKB/TrEMBL
  ENSP00000501749 UniProtKB/TrEMBL
  ENSP00000501809 UniProtKB/TrEMBL
  ENSP00000501888 UniProtKB/TrEMBL
  ENSP00000501935 UniProtKB/TrEMBL
  ENSP00000501978 UniProtKB/TrEMBL
  ENSP00000502122 UniProtKB/TrEMBL
  ENSP00000502170 UniProtKB/TrEMBL
  ENSP00000502231 UniProtKB/TrEMBL
  ENSP00000502270 UniProtKB/TrEMBL
  ENSP00000502341 UniProtKB/TrEMBL
  ENSP00000502358 UniProtKB/TrEMBL
  ENSP00000502360 UniProtKB/TrEMBL
  ENSP00000502434 UniProtKB/TrEMBL
  ENSP00000502531 UniProtKB/TrEMBL
  ENSP00000502553 UniProtKB/TrEMBL
  ENSP00000502608 UniProtKB/TrEMBL
  ENSP00000502609 UniProtKB/TrEMBL
Ensembl Transcript ENST00000286452 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000455537 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000674619 UniProtKB/TrEMBL
  ENST00000674776 UniProtKB/TrEMBL
  ENST00000674858 UniProtKB/TrEMBL
  ENST00000674980 UniProtKB/TrEMBL
  ENST00000675023 UniProtKB/TrEMBL
  ENST00000675216 UniProtKB/TrEMBL
  ENST00000675299 UniProtKB/TrEMBL
  ENST00000675433 UniProtKB/TrEMBL
  ENST00000675629 UniProtKB/TrEMBL
  ENST00000675634 UniProtKB/TrEMBL
  ENST00000675697 UniProtKB/TrEMBL
  ENST00000675866 UniProtKB/TrEMBL
  ENST00000675907 UniProtKB/TrEMBL
  ENST00000676055 UniProtKB/TrEMBL
  ENST00000676250 UniProtKB/TrEMBL
  ENST00000676352 UniProtKB/TrEMBL
  ENST00000676359 UniProtKB/TrEMBL
  ENST00000676437 UniProtKB/TrEMBL
  ENST00000676457 UniProtKB/TrEMBL
Gene3D-CATH 3.40.850.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000155980 GTEx
HGNC ID HGNC:6323 ENTREZGENE
Human Proteome Map KIF5A Human Proteome Map
InterPro Kinesin-like_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinesin_motor_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinesin_motor_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinesin_motor_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3798 UniProtKB/Swiss-Prot
NCBI Gene 3798 ENTREZGENE
OMIM 602821 OMIM
  604187 OMIM
  617235 OMIM
  617921 OMIM
PANTHER PTHR24115 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Kinesin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30107 PharmGKB
PRINTS KINESINHEAVY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE KINESIN_MOTOR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KINESIN_MOTOR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART KISc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A6Q8PEZ8_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFB8_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFD6_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFG5_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFQ3_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFR6_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFV6_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGG7_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGJ3_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGN1_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGP0_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGP8_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGT2_HUMAN UniProtKB/TrEMBL
  A0A6Q8PH22_HUMAN UniProtKB/TrEMBL
  A0A6Q8PH72_HUMAN UniProtKB/TrEMBL
  A0A6Q8PH74_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHA9_HUMAN UniProtKB/TrEMBL
  A5D6Y6_HUMAN UniProtKB/TrEMBL
  J3KNA1_HUMAN UniProtKB/TrEMBL
  KIF5A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A6H8M5 UniProtKB/Swiss-Prot
  Q4LE26 UniProtKB/Swiss-Prot