WASHC5 (WASH complex subunit 5) - Rat Genome Database

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Gene: WASHC5 (WASH complex subunit 5) Homo sapiens
Analyze
Symbol: WASHC5
Name: WASH complex subunit 5
RGD ID: 1605096
HGNC Page HGNC
Description: Predicted to be involved in several processes, including actin filament polymerization; endosome fission; and regulation of actin nucleation. Localizes to WASH complex; early endosome; and nucleoplasm. Implicated in Ritscher-Schinzel syndrome 1 and hereditary spastic paraplegia 8.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: KIAA0196; MGC111053; RTSC; RTSC1; spastic paraplegia 8 (autosomal dominant); SPG8; strumpellin; WASH complex subunit strumpellin
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 Ensembl8125,024,260 - 125,091,819 (-)EnsemblGRCh38hg38GRCh38
GRCh388125,024,260 - 125,091,796 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378126,036,502 - 126,104,034 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368126,105,684 - 126,173,243 (-)NCBINCBI36hg18NCBI36
Celera8122,225,172 - 122,293,224 (-)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8121,360,288 - 121,427,855 (-)NCBIHuRef
CHM1_18126,077,126 - 126,144,676 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (IEA)
early endosome  (IDA)
endoplasmic reticulum  (IEA)
endosome  (IBA,ISO)
neuron projection  (IEA,ISO)
neuronal cell body  (IEA,ISO)
nucleoplasm  (IDA)
WASH complex  (IBA,IDA,IEA)

Molecular Function

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

Human Phenotype
Abnormal hip bone morphology  (IAGP)
Abnormal mitral valve morphology  (IAGP)
Abnormal tricuspid valve morphology  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of the fontanelles or cranial sutures  (IAGP)
Adrenal hypoplasia  (IAGP)
Adult onset  (IAGP)
Anal atresia  (IAGP)
Aortic valve stenosis  (IAGP)
Aplasia/Hypoplasia of the nipples  (IAGP)
Atrial septal defect  (IAGP)
Atrioventricular canal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Broad forehead  (IAGP)
Chorioretinal coloboma  (IAGP)
Cleft palate  (IAGP)
Clonus  (IAGP)
Coloboma  (IAGP)
Dandy-Walker malformation  (IAGP)
Death in infancy  (IAGP)
Decreased response to growth hormone stimuation test  (IAGP)
Degeneration of the lateral corticospinal tracts  (IAGP)
Depressed nasal bridge  (IAGP)
Difficulty walking  (IAGP)
Double outlet right ventricle  (IAGP)
Downslanted palpebral fissures  (IAGP)
Ectopic anus  (IAGP)
Equinovarus deformity  (IAGP)
Facial hemangioma  (IAGP)
Feeding difficulties in infancy  (IAGP)
Finger syndactyly  (IAGP)
Frontal bossing  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hand polydactyly  (IAGP)
Headache  (IAGP)
Hemivertebrae  (IAGP)
High forehead  (IAGP)
High, narrow palate  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplastic fingernail  (IAGP)
Hypoplastic left heart  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Impaired vibration sensation in the lower limbs  (IAGP)
Inguinal hernia  (IAGP)
Insidious onset  (IAGP)
Intellectual disability  (IAGP)
Intestinal malrotation  (IAGP)
Intrauterine growth retardation  (IAGP)
Iris coloboma  (IAGP)
Kyphosis  (IAGP)
Limb ataxia  (IAGP)
Limb dysmetria  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Lower limb muscle weakness  (IAGP)
Lower limb spasticity  (IAGP)
Macrocephaly  (IAGP)
Micrognathia  (IAGP)
Missing ribs  (IAGP)
Muscle spasm  (IAGP)
Muscle weakness  (IAGP)
Neurological speech impairment  (IAGP)
Optic atrophy  (IAGP)
Peroneal muscle atrophy  (IAGP)
Pes cavus  (IAGP)
Posterior fossa cyst  (IAGP)
Postnatal growth retardation  (IAGP)
Preauricular skin tag  (IAGP)
Progressive  (IAGP)
Progressive inability to walk  (IAGP)
Progressive pes cavus  (IAGP)
Progressive spastic paraplegia  (IAGP)
Prominent occiput  (IAGP)
Pulmonic stenosis  (IAGP)
Recurrent respiratory infections  (IAGP)
Scoliosis  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Single umbilical artery  (IAGP)
Spastic gait  (IAGP)
Spastic paraplegia  (IAGP)
Spasticity  (IAGP)
Spinal cord lesion  (IAGP)
Stress urinary incontinence  (IAGP)
Syndactyly  (IAGP)
Tetralogy of Fallot  (IAGP)
Upper limb spasticity  (IAGP)
Urinary bladder sphincter dysfunction  (IAGP)
Urinary incontinence  (IAGP)
Urinary urgency  (IAGP)
Ventricular septal defect  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:8125298   PMID:8724849   PMID:9973294   PMID:12477932   PMID:12665801   PMID:14603436   PMID:15146197   PMID:15489334   PMID:16344560   PMID:17160902   PMID:19922875   PMID:20301682  
PMID:20301727   PMID:20339536   PMID:20360068   PMID:20376207   PMID:20379614   PMID:20833645   PMID:20923837   PMID:21873635   PMID:22863883   PMID:22939629   PMID:23085491   PMID:23331060  
PMID:23455931   PMID:23676666   PMID:23881105   PMID:24065355   PMID:24104479   PMID:24332808   PMID:24643499   PMID:24819384   PMID:24824269   PMID:24931836   PMID:25921289   PMID:26186194  
PMID:26496610   PMID:26638075   PMID:26673895   PMID:26965651   PMID:26967522   PMID:27880917   PMID:28514442   PMID:28718761   PMID:29180619   PMID:29395067   PMID:29467282   PMID:29507755  
PMID:29509190   PMID:29568061   PMID:30021884   PMID:30463901   PMID:30890647   PMID:31055811   PMID:31091453   PMID:31814071   PMID:31971710  


Genomics

Comparative Map Data
WASHC5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8125,024,260 - 125,091,819 (-)EnsemblGRCh38hg38GRCh38
GRCh388125,024,260 - 125,091,796 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378126,036,502 - 126,104,034 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368126,105,684 - 126,173,243 (-)NCBINCBI36hg18NCBI36
Celera8122,225,172 - 122,293,224 (-)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8121,360,288 - 121,427,855 (-)NCBIHuRef
CHM1_18126,077,126 - 126,144,676 (-)NCBICHM1_1
Washc5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391559,203,712 - 59,246,043 (-)NCBIGRCm39mm39
GRCm39 Ensembl1559,203,846 - 59,246,016 (-)Ensembl
GRCm381559,331,863 - 59,374,194 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1559,331,997 - 59,374,167 (-)EnsemblGRCm38mm10GRCm38
MGSCv371559,163,552 - 59,205,707 (-)NCBIGRCm37mm9NCBIm37
MGSCv361559,161,678 - 59,203,833 (-)NCBImm8
Celera1560,862,638 - 60,905,171 (-)NCBICelera
Cytogenetic Map15D1NCBI
Washc5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2790,884,333 - 90,936,118 (-)NCBI
Rnor_6.0 Ensembl799,625,619 - 99,677,268 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0799,625,379 - 99,677,237 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07100,212,544 - 100,263,519 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4796,112,349 - 96,169,399 (-)NCBIRGSC3.4rn4RGSC3.4
Celera787,646,862 - 87,697,773 (-)NCBICelera
Cytogenetic Map7q33NCBI
Washc5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955461145,993 - 199,903 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955461145,993 - 199,274 (-)NCBIChiLan1.0ChiLan1.0
WASHC5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18124,461,424 - 124,529,262 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8124,461,424 - 124,529,262 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08121,710,118 - 121,777,977 (-)NCBIMhudiblu_PPA_v0panPan3
WASHC5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11323,019,422 - 23,078,073 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1323,019,636 - 23,078,280 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1322,983,619 - 23,042,271 (-)NCBI
ROS_Cfam_1.01323,361,232 - 23,419,922 (-)NCBI
UMICH_Zoey_3.11323,081,984 - 23,140,611 (-)NCBI
UNSW_CanFamBas_1.01323,191,178 - 23,249,843 (-)NCBI
UU_Cfam_GSD_1.01323,434,176 - 23,492,905 (-)NCBI
Washc5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530315,241,282 - 15,299,433 (+)NCBI
SpeTri2.0NW_00493647022,667,354 - 22,725,538 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WASHC5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl414,598,148 - 14,668,327 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1414,598,133 - 14,667,535 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2415,149,906 - 15,246,609 (+)NCBISscrofa10.2Sscrofa10.2susScr3
WASHC5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18119,612,921 - 119,679,058 (-)NCBI
ChlSab1.1 Ensembl8119,611,210 - 119,668,885 (-)Ensembl
Vero_WHO_p1.0NW_02366603920,495,821 - 20,567,260 (+)NCBI
Washc5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473530,166,617 - 30,223,404 (+)NCBI

Position Markers
D8S1774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378127,422,484 - 127,422,745UniSTSGRCh37
Build 368127,491,666 - 127,491,927RGDNCBI36
Celera8123,602,541 - 123,602,798RGD
Cytogenetic Map8q24.13UniSTS
HuRef8122,739,610 - 122,739,867UniSTS
Marshfield Genetic Map8137.92RGD
Marshfield Genetic Map8137.92UniSTS
Genethon Genetic Map8136.7UniSTS
Stanford-G3 RH Map83877.0UniSTS
Whitehead-YAC Contig Map8 UniSTS
GeneMap99-G3 RH Map83967.0UniSTS
D8S1804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,864,668 - 124,864,876UniSTSGRCh37
Build 368124,933,849 - 124,934,057RGDNCBI36
Celera8121,052,216 - 121,052,424RGD
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map8q24.1UniSTS
Cytogenetic Map3p26.1UniSTS
HuRef8120,191,361 - 120,191,561UniSTS
Marshfield Genetic Map8131.69UniSTS
Marshfield Genetic Map8131.69RGD
Genethon Genetic Map8130.5UniSTS
TNG Radiation Hybrid Map860184.0UniSTS
deCODE Assembly Map8127.49UniSTS
D8S1932  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,036,592 - 126,036,795UniSTSGRCh37
Build 368126,105,774 - 126,105,977RGDNCBI36
Celera8138,978,934 - 138,979,137UniSTS
Celera8122,225,262 - 122,225,465RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,360,378 - 121,360,581UniSTS
GeneMap99-GB4 RH Map8477.8UniSTS
Whitehead-RH Map8641.4UniSTS
Whitehead-YAC Contig Map8 UniSTS
G62920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,075,277 - 126,075,595UniSTSGRCh37
Build 368126,144,459 - 126,144,777RGDNCBI36
Celera8122,263,962 - 122,264,280RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,399,074 - 121,399,392UniSTS
TNG Radiation Hybrid Map861048.0UniSTS
SHGC-106032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,093,917 - 126,094,251UniSTSGRCh37
Build 368126,163,099 - 126,163,433RGDNCBI36
Celera8122,282,604 - 122,282,938RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,417,717 - 121,418,051UniSTS
TNG Radiation Hybrid Map861048.0UniSTS
D8S1483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,087,349 - 126,087,475UniSTSGRCh37
Build 368126,156,531 - 126,156,657RGDNCBI36
Celera8122,276,033 - 122,276,159RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,411,146 - 121,411,272UniSTS
Whitehead-RH Map8641.4UniSTS
Whitehead-YAC Contig Map8 UniSTS
NCBI RH Map81413.3UniSTS
G20790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,036,519 - 126,036,719UniSTSGRCh37
Build 368126,105,701 - 126,105,901RGDNCBI36
Celera8122,225,189 - 122,225,389RGD
Celera8138,978,861 - 138,979,061UniSTS
Cytogenetic Map8q24.13UniSTS
HuRef8121,360,305 - 121,360,505UniSTS
A006G23  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,036,519 - 126,036,719UniSTSGRCh37
Build 368126,105,701 - 126,105,901RGDNCBI36
Celera8122,225,189 - 122,225,389RGD
Celera8138,978,861 - 138,979,061UniSTS
Cytogenetic Map8q24.13UniSTS
HuRef8121,360,305 - 121,360,505UniSTS
GeneMap99-GB4 RH Map8476.41UniSTS
AFMA122XE9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,038,026 - 126,038,209UniSTSGRCh37
Build 368126,107,208 - 126,107,391RGDNCBI36
Celera8122,226,696 - 122,226,879RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,361,812 - 121,361,997UniSTS
RH47109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,065,478 - 126,065,582UniSTSGRCh37
Build 368126,134,660 - 126,134,764RGDNCBI36
Celera8122,254,163 - 122,254,267RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,389,275 - 121,389,379UniSTS
GeneMap99-GB4 RH Map8478.86UniSTS
RH25409  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24.13UniSTS
GeneMap99-GB4 RH Map8476.51UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:651
Count of miRNA genes:434
Interacting mature miRNAs:466
Transcripts:ENST00000318410, ENST00000517845, ENST00000519042, ENST00000519340, ENST00000521109, ENST00000523297, ENST00000523397, ENST00000530856
Prediction methods:Microtar, 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 pharyngeal arch
High 1
Medium 2320 1888 1439 368 1415 212 4052 1521 2627 356 1288 1538 169 1197 2492 4
Low 118 1101 287 254 536 253 304 674 1106 63 169 74 5 1 7 296 1
Below cutoff 2 2 2 1 3 1 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA810712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC126366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI266595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL134860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN307656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX165397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX781999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D83780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA185885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA189452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000318410   ⟹   ENSP00000318016
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,024,260 - 125,091,792 (-)Ensembl
RefSeq Acc Id: ENST00000517845   ⟹   ENSP00000429676
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,024,267 - 125,091,783 (-)Ensembl
RefSeq Acc Id: ENST00000519042
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,024,260 - 125,032,714 (-)Ensembl
RefSeq Acc Id: ENST00000519340
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,082,422 - 125,091,819 (-)Ensembl
RefSeq Acc Id: ENST00000521109
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,082,433 - 125,091,790 (-)Ensembl
RefSeq Acc Id: ENST00000523297   ⟹   ENSP00000427946
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,075,041 - 125,091,724 (-)Ensembl
RefSeq Acc Id: ENST00000523397
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,082,886 - 125,083,856 (-)Ensembl
RefSeq Acc Id: ENST00000530856
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,044,486 - 125,049,031 (-)Ensembl
RefSeq Acc Id: NM_001330609   ⟹   NP_001317538
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,024,260 - 125,091,792 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014846   ⟹   NP_055661
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,024,260 - 125,091,792 (-)NCBI
GRCh378126,036,502 - 126,104,061 (-)ENTREZGENE
GRCh378126,036,502 - 126,104,061 (-)NCBI
Build 368126,105,684 - 126,173,243 (-)NCBI Archive
HuRef8121,360,288 - 121,427,855 (-)ENTREZGENE
CHM1_18126,077,126 - 126,144,676 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517409   ⟹   XP_011515711
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,035,355 - 125,091,796 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014113   ⟹   XP_016869602
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,024,266 - 125,091,413 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055661   ⟸   NM_014846
- Peptide Label: isoform 1
- UniProtKB: Q12768 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515711   ⟸   XM_011517409
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016869602   ⟸   XM_017014113
- Peptide Label: isoform X1
- UniProtKB: Q12768 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001317538   ⟸   NM_001330609
- Peptide Label: isoform 2
- UniProtKB: E7EQI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000429676   ⟸   ENST00000517845
RefSeq Acc Id: ENSP00000427946   ⟸   ENST00000523297
RefSeq Acc Id: ENSP00000318016   ⟸   ENST00000318410

Promoters
RGD ID:7214161
Promoter ID:EPDNEW_H12826
Type:initiation region
Name:WASHC5_1
Description:WASH complex subunit 5
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
GRCh388125,091,792 - 125,091,852EPDNEW
RGD ID:6806822
Promoter ID:HG_KWN:62068
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_014846,   NM_173685,   UC003YRV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368126,172,986 - 126,173,486 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014846.4(WASHC5):c.1576G>A (p.Asp526Asn) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001160150]|not specified [RCV000517768] Chr8:125059488 [GRCh38]
Chr8:126071730 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.1968G>A (p.Leu656=) single nucleotide variant not specified [RCV000518664] Chr8:125056725 [GRCh38]
Chr8:126068967 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.1668C>T (p.Phe556=) single nucleotide variant not provided [RCV000542642] Chr8:125059396 [GRCh38]
Chr8:126071638 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.1018C>T (p.Gln340Ter) single nucleotide variant not provided [RCV000579234] Chr8:125073285 [GRCh38]
Chr8:126085527 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000001220]|Ritscher-Schinzel syndrome 1 [RCV000469759] Chr8:125056817 [GRCh38]
Chr8:126069059 [GRCh37]
Chr8:8q24.13
pathogenic
NM_014846.4(WASHC5):c.1857G>C (p.Leu619Phe) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000001221] Chr8:125057574 [GRCh38]
Chr8:126069816 [GRCh37]
Chr8:8q24.13
pathogenic
NM_014846.4(WASHC5):c.1411A>G (p.Asn471Asp) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000001222] Chr8:125061192 [GRCh38]
Chr8:126073434 [GRCh37]
Chr8:8q24.13
pathogenic
NM_014846.4(WASHC5):c.3335+2T>A single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV000077794] Chr8:125032239 [GRCh38]
Chr8:126044481 [GRCh37]
Chr8:8q24.13
pathogenic
NM_014846.4(WASHC5):c.1857G>T (p.Leu619Phe) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000032101] Chr8:125057574 [GRCh38]
Chr8:126069816 [GRCh37]
Chr8:8q24.13
pathogenic
GRCh38/hg38 8q24.13(chr8:124125245-125337217)x3 copy number gain See cases [RCV000050762] Chr8:124125245..125337217 [GRCh38]
Chr8:125137486..126349459 [GRCh37]
Chr8:125206667..126418641 [NCBI36]
Chr8:8q24.13
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
NM_014846.3(KIAA0196):c.623C>T (p.Pro208Leu) single nucleotide variant Malignant melanoma [RCV000068146] Chr8:125078826 [GRCh38]
Chr8:126091068 [GRCh37]
Chr8:126160250 [NCBI36]
Chr8:8q24.13
not provided
NM_014846.4(WASHC5):c.2087G>C (p.Gly696Ala) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000055943] Chr8:125055601 [GRCh38]
Chr8:126067843 [GRCh37]
Chr8:8q24.13
pathogenic
NM_014846.3(KIAA0196):c.1408+29G>A single nucleotide variant Lung cancer [RCV000107011] Chr8:125063493 [GRCh38]
Chr8:126075735 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000576481]|Hereditary spastic paraplegia 8 [RCV000860469]|not specified [RCV000117383] Chr8:125032285 [GRCh38]
Chr8:126044527 [GRCh37]
Chr8:8q24.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_014846.4(WASHC5):c.597A>G (p.Pro199=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000465719]|Hereditary spastic paraplegia 8 [RCV000576672]|not specified [RCV000117384] Chr8:125078852 [GRCh38]
Chr8:126091094 [GRCh37]
Chr8:8q24.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_014846.4(WASHC5):c.1669G>A (p.Ala557Thr) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001158802]|not provided [RCV000171420] Chr8:125059395 [GRCh38]
Chr8:126071637 [GRCh37]
Chr8:8q24.13
likely pathogenic|uncertain significance
NM_014846.4(WASHC5):c.2771-7T>C single nucleotide variant Hereditary spastic paraplegia 8 [RCV000198692]|Hereditary spastic paraplegia 8 [RCV000316026]|not specified [RCV000176412] Chr8:125043911 [GRCh38]
Chr8:126056153 [GRCh37]
Chr8:8q24.13
benign|likely benign
NM_014846.4(WASHC5):c.333-19A>G single nucleotide variant not specified [RCV000178298] Chr8:125082486 [GRCh38]
Chr8:126094728 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.417+11A>G single nucleotide variant Hereditary spastic paraplegia 8 [RCV000331860]|not specified [RCV000178299] Chr8:125082372 [GRCh38]
Chr8:126094614 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.3424-1G>T single nucleotide variant Hereditary spastic paraplegia 8 [RCV001331908] Chr8:125024674 [GRCh38]
Chr8:126036916 [GRCh37]
Chr8:8q24.13
likely pathogenic
GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3 copy number gain See cases [RCV000133620] Chr8:122454392..128513076 [GRCh38]
Chr8:123466631..129525322 [GRCh37]
Chr8:123535812..129594504 [NCBI36]
Chr8:8q24.13-24.21
pathogenic
GRCh38/hg38 8q24.13(chr8:124895891-125399814)x3 copy number gain See cases [RCV000134345] Chr8:124895891..125399814 [GRCh38]
Chr8:125908133..126412056 [GRCh37]
Chr8:125977314..126481238 [NCBI36]
Chr8:8q24.13
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
NM_014846.4(WASHC5):c.1007G>C (p.Arg336Thr) single nucleotide variant not specified [RCV000202751] Chr8:125073296 [GRCh38]
Chr8:126085538 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
NM_014846.4(WASHC5):c.639G>C (p.Gln213His) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001163829]|not provided [RCV000767086]|not specified [RCV000202950] Chr8:125078810 [GRCh38]
Chr8:126091052 [GRCh37]
Chr8:8q24.13
likely benign|uncertain significance
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13(chr8:125089748-125243024)x1 copy number loss See cases [RCV000139653] Chr8:125089748..125243024 [GRCh38]
Chr8:126101990..126255266 [GRCh37]
Chr8:126171172..126324448 [NCBI36]
Chr8:8q24.13
uncertain significance
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q24.13(chr8:125084554-125157061)x1 copy number loss See cases [RCV000141375] Chr8:125084554..125157061 [GRCh38]
Chr8:126096796..126169303 [GRCh37]
Chr8:126165978..126238485 [NCBI36]
Chr8:8q24.13
uncertain significance
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000327803]|Hereditary spastic paraplegia 8 [RCV001081808]|not provided [RCV000443176]|not specified [RCV000176752] Chr8:125032257 [GRCh38]
Chr8:126044499 [GRCh37]
Chr8:8q24.13
benign|likely benign
NM_014846.4(WASHC5):c.3296T>C (p.Ile1099Thr) single nucleotide variant Spastic paraplegia [RCV000230776]|not provided [RCV000176753] Chr8:125032280 [GRCh38]
Chr8:126044522 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2430G>C (p.Lys810Asn) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000196646] Chr8:125047281 [GRCh38]
Chr8:126059523 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.161T>C (p.Ile54Thr) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001320209]|Spastic paraplegia [RCV000199557] Chr8:125083738 [GRCh38]
Chr8:126095980 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.3356C>G (p.Pro1119Arg) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001246597] Chr8:125028687 [GRCh38]
Chr8:126040929 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.*3del deletion Spastic paraplegia [RCV000205252] Chr8:125024614 [GRCh38]
Chr8:126036856 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.867A>C (p.Val289=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000205822]|Hereditary spastic paraplegia 8 [RCV001163531]|not specified [RCV000516883] Chr8:125075109 [GRCh38]
Chr8:126087351 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.1408+4A>C single nucleotide variant Spastic paraplegia [RCV000204034] Chr8:125063518 [GRCh38]
Chr8:126075760 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.885G>A (p.Gly295=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001163530]|not provided [RCV000543292] Chr8:125075091 [GRCh38]
Chr8:126087333 [GRCh37]
Chr8:8q24.13
benign|likely benign|uncertain significance
NM_014846.4(WASHC5):c.1409-8A>C single nucleotide variant not provided [RCV000233146] Chr8:125061202 [GRCh38]
Chr8:126073444 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.2137G>A (p.Glu713Lys) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001350492]|Spastic paraplegia [RCV000227999] Chr8:125050626 [GRCh38]
Chr8:126062868 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.655G>A (p.Glu219Lys) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000261440]|not provided [RCV000233570] Chr8:125078794 [GRCh38]
Chr8:126091036 [GRCh37]
Chr8:8q24.13
benign|likely benign
NM_014846.4(WASHC5):c.2850+4T>C single nucleotide variant Hereditary spastic paraplegia 8 [RCV000286638] Chr8:125043821 [GRCh38]
Chr8:126056063 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.1245A>G (p.Leu415=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000397829]|Hereditary spastic paraplegia 8 [RCV001086090]|not provided [RCV000713490]|not specified [RCV000419066] Chr8:125067625 [GRCh38]
Chr8:126079867 [GRCh37]
Chr8:8q24.13
benign|likely benign
NM_014846.4(WASHC5):c.1029A>G (p.Gln343=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000267285] Chr8:125073274 [GRCh38]
Chr8:126085516 [GRCh37]
Chr8:8q24.13
benign|likely benign
NM_014846.4(WASHC5):c.187-3C>T single nucleotide variant Hereditary spastic paraplegia 8 [RCV000576862]|Hereditary spastic paraplegia 8 [RCV000860477]|not specified [RCV000424868] Chr8:125083261 [GRCh38]
Chr8:126095503 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.-241G>A single nucleotide variant Hereditary spastic paraplegia 8 [RCV000395403] Chr8:125091731 [GRCh38]
Chr8:126103973 [GRCh37]
Chr8:8q24.13
benign|likely benign
NM_014846.4(WASHC5):c.*40del deletion Spastic paraplegia, autosomal dominant [RCV000314921] Chr8:125024577 [GRCh38]
Chr8:126036819 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.1187A>G (p.Lys396Arg) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000302529]|Hereditary spastic paraplegia 8 [RCV000860686]|not specified [RCV001289256] Chr8:125067683 [GRCh38]
Chr8:126079925 [GRCh37]
Chr8:8q24.13
benign|likely benign
NM_014846.4(WASHC5):c.3200C>T (p.Pro1067Leu) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000321879]|Hereditary spastic paraplegia 8 [RCV001326734] Chr8:125032376 [GRCh38]
Chr8:126044618 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.-178T>C single nucleotide variant Hereditary spastic paraplegia 8 [RCV000303486] Chr8:125091668 [GRCh38]
Chr8:126103910 [GRCh37]
Chr8:8q24.13
benign|likely benign
NM_014846.4(WASHC5):c.3423+12_3423+15del microsatellite Spastic paraplegia, autosomal dominant [RCV000270330] Chr8:125028605..125028608 [GRCh38]
Chr8:126040847..126040850 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2098-13G>A single nucleotide variant Hereditary spastic paraplegia 8 [RCV000349003]|not specified [RCV000611557] Chr8:125050678 [GRCh38]
Chr8:126062920 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.2199+4C>A single nucleotide variant Hereditary spastic paraplegia 8 [RCV000372859]|not provided [RCV000868564] Chr8:125050560 [GRCh38]
Chr8:126062802 [GRCh37]
Chr8:8q24.13
benign|likely benign
NM_014846.4(WASHC5):c.732G>A (p.Pro244=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000306025]|Hereditary spastic paraplegia 8 [RCV001088032]|not provided [RCV000459063]|not specified [RCV000435907] Chr8:125076480 [GRCh38]
Chr8:126088722 [GRCh37]
Chr8:8q24.13
benign|likely benign
NM_014846.4(WASHC5):c.1408+7A>G single nucleotide variant Hereditary spastic paraplegia 8 [RCV000405555]|Hereditary spastic paraplegia 8 [RCV001086091]|not provided [RCV000713491]|not specified [RCV000429338] Chr8:125063515 [GRCh38]
Chr8:126075757 [GRCh37]
Chr8:8q24.13
benign|likely benign
NM_014846.4(WASHC5):c.1764+12A>G single nucleotide variant Hereditary spastic paraplegia 8 [RCV000352533]|not specified [RCV000430796] Chr8:125059210 [GRCh38]
Chr8:126071452 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.555T>C (p.Asp185=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000274475]|Hereditary spastic paraplegia 8 [RCV000863123] Chr8:125078894 [GRCh38]
Chr8:126091136 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.-124-10G>T single nucleotide variant Hereditary spastic paraplegia 8 [RCV000290765]|not specified [RCV000434880] Chr8:125084032 [GRCh38]
Chr8:126096274 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.-253G>A single nucleotide variant Hereditary spastic paraplegia 8 [RCV000354878] Chr8:125091743 [GRCh38]
Chr8:126103985 [GRCh37]
Chr8:8q24.13
benign|likely benign
NM_014846.4(WASHC5):c.*269_*270del deletion Spastic paraplegia, autosomal dominant [RCV000311331] Chr8:125024347..125024348 [GRCh38]
Chr8:126036589..126036590 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.-20A>G single nucleotide variant Hereditary spastic paraplegia 8 [RCV000382824] Chr8:125083918 [GRCh38]
Chr8:126096160 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.1151-8G>A single nucleotide variant Hereditary spastic paraplegia 8 [RCV000359647]|Hereditary spastic paraplegia 8 [RCV001086773]|not provided [RCV000713489]|not specified [RCV000436758] Chr8:125067727 [GRCh38]
Chr8:126079969 [GRCh37]
Chr8:8q24.13
benign|likely benign
NM_014846.4(WASHC5):c.2017-13T>C single nucleotide variant Hereditary spastic paraplegia 8 [RCV000295312] Chr8:125055684 [GRCh38]
Chr8:126067926 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.316A>G (p.Ile106Val) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000296727]|Hereditary spastic paraplegia 8 [RCV000983931] Chr8:125083129 [GRCh38]
Chr8:126095371 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.3438T>C (p.His1146=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000362562] Chr8:125024659 [GRCh38]
Chr8:126036901 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.405A>G (p.Gly135=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000388683] Chr8:125082395 [GRCh38]
Chr8:126094637 [GRCh37]
Chr8:8q24.13
likely benign|uncertain significance
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000264449]|Hereditary spastic paraplegia 8 [RCV001088113]|not provided [RCV000465535]|not specified [RCV000607572] Chr8:125032351 [GRCh38]
Chr8:126044593 [GRCh37]
Chr8:8q24.13
benign|likely benign
NM_014846.4(WASHC5):c.2100G>A (p.Val700=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000280767]|Hereditary spastic paraplegia 8 [RCV000466625] Chr8:125050663 [GRCh38]
Chr8:126062905 [GRCh37]
Chr8:8q24.13
benign|likely benign
NM_014846.4(WASHC5):c.-245C>G single nucleotide variant Hereditary spastic paraplegia 8 [RCV000297709] Chr8:125091735 [GRCh38]
Chr8:126103977 [GRCh37]
Chr8:8q24.13
benign|likely benign
NM_014846.4(WASHC5):c.636C>T (p.Phe212=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000319018] Chr8:125078813 [GRCh38]
Chr8:126091055 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.*78A>G single nucleotide variant Hereditary spastic paraplegia 8 [RCV000393315] Chr8:125024539 [GRCh38]
Chr8:126036781 [GRCh37]
Chr8:8q24.13
benign|likely benign
NM_014846.4(WASHC5):c.617A>G (p.Asn206Ser) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000861398]|not specified [RCV000346292] Chr8:125078832 [GRCh38]
Chr8:126091074 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.2575C>T (p.Arg859Cys) single nucleotide variant not provided [RCV000330165] Chr8:125044628 [GRCh38]
Chr8:126056870 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2888A>G (p.Asn963Ser) single nucleotide variant not provided [RCV000489354] Chr8:125039861 [GRCh38]
Chr8:126052103 [GRCh37]
Chr8:8q24.13
likely pathogenic
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000555090]|Hereditary spastic paraplegia 8 [RCV000825002] Chr8:125057660 [GRCh38]
Chr8:126069902 [GRCh37]
Chr8:8q24.13
pathogenic|likely pathogenic|uncertain significance
NM_014846.4(WASHC5):c.1340C>T (p.Ser447Leu) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000346681] Chr8:125063590 [GRCh38]
Chr8:126075832 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.-124-17dup duplication Spastic paraplegia, autosomal dominant [RCV000348018] Chr8:125084032..125084033 [GRCh38]
Chr8:126096274..126096275 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2052T>G (p.Thr684=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000403572]|not provided [RCV000869355] Chr8:125055636 [GRCh38]
Chr8:126067878 [GRCh37]
Chr8:8q24.13
likely benign|uncertain significance
NM_014846.4(WASHC5):c.*124A>C single nucleotide variant Hereditary spastic paraplegia 8 [RCV000368225] Chr8:125024493 [GRCh38]
Chr8:126036735 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.1345C>A (p.Arg449=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000308232]|Muscle weakness [RCV000626920] Chr8:125063585 [GRCh38]
Chr8:126075827 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.657A>G (p.Glu219=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000353942] Chr8:125078792 [GRCh38]
Chr8:126091034 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.-167C>T single nucleotide variant Hereditary spastic paraplegia 8 [RCV000390575] Chr8:125091657 [GRCh38]
Chr8:126103899 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2016+10C>G single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV000531120] Chr8:125056667 [GRCh38]
Chr8:126068909 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.-219G>C single nucleotide variant Hereditary spastic paraplegia 8 [RCV000342051] Chr8:125091709 [GRCh38]
Chr8:126103951 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2954+13G>T single nucleotide variant Hereditary spastic paraplegia 8 [RCV000378789] Chr8:125039782 [GRCh38]
Chr8:126052024 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2139G>A (p.Glu713=) single nucleotide variant not specified [RCV000607109] Chr8:125050624 [GRCh38]
Chr8:126062866 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.3210G>A (p.Pro1070=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000554231]|Hereditary spastic paraplegia 8 [RCV001163430] Chr8:125032366 [GRCh38]
Chr8:126044608 [GRCh37]
Chr8:8q24.13
likely benign|uncertain significance
NM_014846.4(WASHC5):c.2580C>T (p.Leu860=) single nucleotide variant not provided [RCV001092148] Chr8:125044623 [GRCh38]
Chr8:126056865 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.1942G>A (p.Asp648Asn) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000638547] Chr8:125056751 [GRCh38]
Chr8:126068993 [GRCh37]
Chr8:8q24.13
likely benign|uncertain significance
NM_014846.4(WASHC5):c.1847C>T (p.Ser616Phe) single nucleotide variant not provided [RCV000414594] Chr8:125057584 [GRCh38]
Chr8:126069826 [GRCh37]
Chr8:8q24.13
likely pathogenic
NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001201348]|Ritscher-Schinzel syndrome 1 [RCV000638546]|not provided [RCV000416031] Chr8:125047289 [GRCh38]
Chr8:126059531 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_014846.4(WASHC5):c.186+17G>A single nucleotide variant not specified [RCV000417700] Chr8:125083696 [GRCh38]
Chr8:126095938 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.3181+4C>T single nucleotide variant Hereditary spastic paraplegia 8 [RCV000983914]|not specified [RCV000427489] Chr8:125037233 [GRCh38]
Chr8:126049475 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.18C>T (p.Ala6=) single nucleotide variant not provided [RCV000871763]|not specified [RCV000435928] Chr8:125083881 [GRCh38]
Chr8:126096123 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.418-9T>G single nucleotide variant not specified [RCV000420093] Chr8:125081770 [GRCh38]
Chr8:126094012 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.2829G>A (p.Ala943=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000868154]|not specified [RCV000433147] Chr8:125043846 [GRCh38]
Chr8:126056088 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.979-20C>T single nucleotide variant not specified [RCV000420386] Chr8:125073344 [GRCh38]
Chr8:126085586 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV000463139]|not provided [RCV000490087] Chr8:125055602 [GRCh38]
Chr8:126067844 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.96C>G (p.Leu32=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000470412] Chr8:125083803 [GRCh38]
Chr8:126096045 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.711+24_711+33del microsatellite not specified [RCV000483844] Chr8:125078705..125078714 [GRCh38]
Chr8:126090947..126090956 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.2972T>C (p.Ile991Thr) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001324800]|Spastic paraplegia [RCV000475955] Chr8:125038942 [GRCh38]
Chr8:126051184 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.1238T>G (p.Leu413Arg) single nucleotide variant not provided [RCV000478039] Chr8:125067632 [GRCh38]
Chr8:126079874 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.1688+10del deletion Hereditary spastic paraplegia 8 [RCV000458234] Chr8:125059366 [GRCh38]
Chr8:126071608 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.3104G>A (p.Arg1035His) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001319593]|Spastic paraplegia [RCV000462563] Chr8:125037314 [GRCh38]
Chr8:126049556 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8q24.13-24.21(chr8:125539280-128129372)x1 copy number loss See cases [RCV000510509] Chr8:125539280..128129372 [GRCh37]
Chr8:8q24.13-24.21
uncertain significance
NM_014846.4(WASHC5):c.3029T>G (p.Leu1010Ter) single nucleotide variant not specified [RCV000501687] Chr8:125038885 [GRCh38]
Chr8:126051127 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001086849]|Hereditary spastic paraplegia 8 [RCV001163828]|not provided [RCV000498521] Chr8:125078802 [GRCh38]
Chr8:126091044 [GRCh37]
Chr8:8q24.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_014846.4(WASHC5):c.2971A>G (p.Ile991Val) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV000541755] Chr8:125038943 [GRCh38]
Chr8:126051185 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2090_2092TCA[1] (p.Ile698del) microsatellite Ritscher-Schinzel syndrome 1 [RCV000638548] Chr8:125055593..125055595 [GRCh38]
Chr8:126067835..126067837 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.1818C>T (p.Pro606=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000860626]|not specified [RCV000596566] Chr8:125057613 [GRCh38]
Chr8:126069855 [GRCh37]
Chr8:8q24.13
benign|likely benign
NM_014846.4(WASHC5):c.2770+18_2770+19insG insertion not specified [RCV000600902] Chr8:125043973..125043974 [GRCh38]
Chr8:126056215..126056216 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.1785G>T (p.Leu595=) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV000638550] Chr8:125057646 [GRCh38]
Chr8:126069888 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.2532C>T (p.Asn844=) single nucleotide variant not specified [RCV000615662] Chr8:125044671 [GRCh38]
Chr8:126056913 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.332+11A>G single nucleotide variant not specified [RCV000612536] Chr8:125083102 [GRCh38]
Chr8:126095344 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000585718]|Hereditary spastic paraplegia 8 [RCV001069360]|not provided [RCV001268029] Chr8:125057659 [GRCh38]
Chr8:126069901 [GRCh37]
Chr8:8q24.13
likely pathogenic|uncertain significance
NM_014846.4(WASHC5):c.333-20C>T single nucleotide variant not specified [RCV000611129] Chr8:125082487 [GRCh38]
Chr8:126094729 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
NM_014846.4(WASHC5):c.872G>A (p.Ser291Asn) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV000638549] Chr8:125075104 [GRCh38]
Chr8:126087346 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_014846.4(WASHC5):c.1882C>A (p.Gln628Lys) single nucleotide variant not provided [RCV000713492] Chr8:125056811 [GRCh38]
Chr8:126069053 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.511C>T (p.Arg171Ter) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV000698728] Chr8:125081668 [GRCh38]
Chr8:126093910 [GRCh37]
Chr8:8q24.13
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV000701312] Chr8:125055601 [GRCh38]
Chr8:126067843 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV000707560] Chr8:125078767 [GRCh38]
Chr8:126091009 [GRCh37]
Chr8:8q24.13
pathogenic
NM_014846.4(WASHC5):c.3047A>G (p.Tyr1016Cys) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV000707564] Chr8:125038867 [GRCh38]
Chr8:126051109 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2769C>T (p.Val923=) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV000705074] Chr8:125043993 [GRCh38]
Chr8:126056235 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2003G>T (p.Gly668Val) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV000705845] Chr8:125056690 [GRCh38]
Chr8:126068932 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.1178G>A (p.Arg393His) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000685841]|Hereditary spastic paraplegia 8 [RCV001163529] Chr8:125067692 [GRCh38]
Chr8:126079934 [GRCh37]
Chr8:8q24.13
likely benign|uncertain significance
NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV000695426] Chr8:125059239 [GRCh38]
Chr8:126071481 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.3020_3021AC[2] (p.Leu1009fs) microsatellite Ritscher-Schinzel syndrome 1 [RCV000695561] Chr8:125038889..125038890 [GRCh38]
Chr8:126051131..126051132 [GRCh37]
Chr8:8q24.13
pathogenic
NM_014846.4(WASHC5):c.704dup (p.Tyr235Ter) duplication Ritscher-Schinzel syndrome 1 [RCV000691067] Chr8:125078744..125078745 [GRCh38]
Chr8:126090986..126090987 [GRCh37]
Chr8:8q24.13
pathogenic
NM_014846.4(WASHC5):c.1151-2A>G single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV000691473] Chr8:125067721 [GRCh38]
Chr8:126079963 [GRCh37]
Chr8:8q24.13
likely pathogenic
NM_014846.4(WASHC5):c.413T>G (p.Leu138Arg) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV000705612] Chr8:125082387 [GRCh38]
Chr8:126094629 [GRCh37]
Chr8:8q24.13
uncertain significance
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.13(chr8:126082565-126611303)x3 copy number gain not provided [RCV000747819] Chr8:126082565..126611303 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.612A>G (p.Pro204=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000875138] Chr8:125078837 [GRCh38]
Chr8:126091079 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.2644T>G (p.Phe882Val) single nucleotide variant not provided [RCV000762538] Chr8:125044559 [GRCh38]
Chr8:126056801 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.451C>T (p.Leu151=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000864898] Chr8:125081728 [GRCh38]
Chr8:126093970 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.2954+10A>G single nucleotide variant not provided [RCV000865365] Chr8:125039785 [GRCh38]
Chr8:126052027 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.187-5C>T single nucleotide variant not provided [RCV000892275] Chr8:125083263 [GRCh38]
Chr8:126095505 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.2013C>T (p.Tyr671=) single nucleotide variant not provided [RCV000867363] Chr8:125056680 [GRCh38]
Chr8:126068922 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.1779C>T (p.Leu593=) single nucleotide variant not provided [RCV000867730] Chr8:125057652 [GRCh38]
Chr8:126069894 [GRCh37]
Chr8:8q24.13
likely benign|conflicting interpretations of pathogenicity
NM_014846.4(WASHC5):c.1522-10T>A single nucleotide variant not provided [RCV000863939] Chr8:125059552 [GRCh38]
Chr8:126071794 [GRCh37]
Chr8:8q24.13
likely benign|conflicting interpretations of pathogenicity
NM_014846.4(WASHC5):c.1901T>A (p.Met634Lys) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001035223] Chr8:125056792 [GRCh38]
Chr8:126069034 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2789A>C (p.Tyr930Ser) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001069120] Chr8:125043886 [GRCh38]
Chr8:126056128 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.777C>T (p.Tyr259=) single nucleotide variant not provided [RCV000867281] Chr8:125076435 [GRCh38]
Chr8:126088677 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.1521+10C>T single nucleotide variant not provided [RCV000869891] Chr8:125061072 [GRCh38]
Chr8:126073314 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.187-14dup duplication not provided [RCV000863893] Chr8:125083263..125083264 [GRCh38]
Chr8:126095505..126095506 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.666C>T (p.Ile222=) single nucleotide variant not provided [RCV000870575] Chr8:125078783 [GRCh38]
Chr8:126091025 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.12T>C (p.Phe4=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000863247]|Hereditary spastic paraplegia 8 [RCV001158911] Chr8:125083887 [GRCh38]
Chr8:126096129 [GRCh37]
Chr8:8q24.13
benign|likely benign
NM_014846.4(WASHC5):c.513A>T (p.Arg171=) single nucleotide variant not provided [RCV000875721] Chr8:125081666 [GRCh38]
Chr8:126093908 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.865-6T>C single nucleotide variant not provided [RCV000977940] Chr8:125075117 [GRCh38]
Chr8:126087359 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.450A>G (p.Leu150=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000869327] Chr8:125081729 [GRCh38]
Chr8:126093971 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.1605C>T (p.Ile535=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000863142] Chr8:125059459 [GRCh38]
Chr8:126071701 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.336T>C (p.Tyr112=) single nucleotide variant not provided [RCV000870587] Chr8:125082464 [GRCh38]
Chr8:126094706 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.3269G>A (p.Arg1090Gln) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV000816314] Chr8:125032307 [GRCh38]
Chr8:126044549 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2158T>G (p.Phe720Val) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000801541] Chr8:125050605 [GRCh38]
Chr8:126062847 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.1891C>A (p.Pro631Thr) single nucleotide variant not provided [RCV000999066] Chr8:125056802 [GRCh38]
Chr8:126069044 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.-124-331A>G single nucleotide variant not provided [RCV000828966] Chr8:125084353 [GRCh38]
Chr8:126096595 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.2955-299T>G single nucleotide variant not provided [RCV000843993] Chr8:125039258 [GRCh38]
Chr8:126051500 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.3181+288T>C single nucleotide variant not provided [RCV000843995] Chr8:125036949 [GRCh38]
Chr8:126049191 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.3423+289G>A single nucleotide variant not provided [RCV000843998] Chr8:125028331 [GRCh38]
Chr8:126040573 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.572G>A (p.Arg191Gln) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV000820564] Chr8:125078877 [GRCh38]
Chr8:126091119 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.1597C>T (p.Gln533Ter) single nucleotide variant not provided [RCV000993076] Chr8:125059467 [GRCh38]
Chr8:126071709 [GRCh37]
Chr8:8q24.13
likely pathogenic
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_014846.4(WASHC5):c.526C>T (p.Arg176Ter) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV000801874]|Ritscher-Schinzel syndrome 1 [RCV001335676] Chr8:125078923 [GRCh38]
Chr8:126091165 [GRCh37]
Chr8:8q24.13
pathogenic
NM_014846.4(WASHC5):c.2200-285G>A single nucleotide variant not provided [RCV000829010] Chr8:125049470 [GRCh38]
Chr8:126061712 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.2327G>A (p.Arg776His) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000785132] Chr8:125049058 [GRCh38]
Chr8:126061300 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2199+5C>G single nucleotide variant Hereditary spastic paraplegia 8 [RCV000863141] Chr8:125050559 [GRCh38]
Chr8:126062801 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.712-25T>C single nucleotide variant not provided [RCV000842958] Chr8:125076525 [GRCh38]
Chr8:126088767 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.2851-210A>G single nucleotide variant not provided [RCV000842960] Chr8:125040108 [GRCh38]
Chr8:126052350 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.3181+36A>G single nucleotide variant not provided [RCV000842962] Chr8:125037201 [GRCh38]
Chr8:126049443 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.1278+62T>A single nucleotide variant not provided [RCV000842964] Chr8:125067530 [GRCh38]
Chr8:126079772 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.1278+137G>C single nucleotide variant not provided [RCV000842965] Chr8:125067455 [GRCh38]
Chr8:126079697 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.2016+46A>C single nucleotide variant not provided [RCV000842966] Chr8:125056631 [GRCh38]
Chr8:126068873 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.3084+193G>A single nucleotide variant not provided [RCV000842967] Chr8:125038637 [GRCh38]
Chr8:126050879 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.1689-4A>G single nucleotide variant Hereditary spastic paraplegia 8 [RCV000863370] Chr8:125059301 [GRCh38]
Chr8:126071543 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.2025G>A (p.Lys675=) single nucleotide variant not provided [RCV000830942] Chr8:125055663 [GRCh38]
Chr8:126067905 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.2505-9T>C single nucleotide variant not provided [RCV000872753] Chr8:125044707 [GRCh38]
Chr8:126056949 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.166T>C (p.Phe56Leu) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV000800216] Chr8:125083733 [GRCh38]
Chr8:126095975 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2379+8A>T single nucleotide variant not provided [RCV000874464] Chr8:125048998 [GRCh38]
Chr8:126061240 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.1297T>C (p.Ser433Pro) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV000811687] Chr8:125063633 [GRCh38]
Chr8:126075875 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.498G>A (p.Leu166=) single nucleotide variant not provided [RCV000829880] Chr8:125081681 [GRCh38]
Chr8:126093923 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.2017-284A>G single nucleotide variant not provided [RCV000829884] Chr8:125055955 [GRCh38]
Chr8:126068197 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.2485C>T (p.Leu829=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000862303] Chr8:125047226 [GRCh38]
Chr8:126059468 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.2851-348A>G single nucleotide variant not provided [RCV000830245] Chr8:125040246 [GRCh38]
Chr8:126052488 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q24.13-24.21(chr8:123074293-131113892)x1 copy number loss not provided [RCV000848164] Chr8:123074293..131113892 [GRCh37]
Chr8:8q24.13-24.21
pathogenic
GRCh37/hg19 8q24.13(chr8:125584474-126043912)x1 copy number loss not provided [RCV001006142] Chr8:125584474..126043912 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_014846.4(WASHC5):c.2262T>C (p.Ser754=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001163720] Chr8:125049123 [GRCh38]
Chr8:126061365 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.*190C>T single nucleotide variant Hereditary spastic paraplegia 8 [RCV001161906] Chr8:125024427 [GRCh38]
Chr8:126036669 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.420T>A (p.Cys140Ter) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV000988116]|not provided [RCV000999068] Chr8:125081759 [GRCh38]
Chr8:126094001 [GRCh37]
Chr8:8q24.13
likely benign|uncertain significance
NM_014846.4(WASHC5):c.344A>G (p.Asp115Gly) single nucleotide variant not provided [RCV000999069] Chr8:125082456 [GRCh38]
Chr8:126094698 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_014846.4(WASHC5):c.860A>G (p.Asn287Ser) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001221301] Chr8:125076352 [GRCh38]
Chr8:126088594 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.13(chr8:124878368-126737708)x3 copy number gain not provided [RCV001006141] Chr8:124878368..126737708 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.233A>G (p.Gln78Arg) single nucleotide variant not provided [RCV001200486] Chr8:125083212 [GRCh38]
Chr8:126095454 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2076G>A (p.Thr692=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001158800]|not provided [RCV000861603] Chr8:125055612 [GRCh38]
Chr8:126067854 [GRCh37]
Chr8:8q24.13
likely benign|uncertain significance
NM_014846.4(WASHC5):c.187-6T>C single nucleotide variant Hereditary spastic paraplegia 8 [RCV000860695] Chr8:125083264 [GRCh38]
Chr8:126095506 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.2190T>C (p.Pro730=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000977357] Chr8:125050573 [GRCh38]
Chr8:126062815 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.552C>T (p.Asp184=) single nucleotide variant not provided [RCV000866694] Chr8:125078897 [GRCh38]
Chr8:126091139 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.2502A>G (p.Pro834=) single nucleotide variant not provided [RCV000886774] Chr8:125047209 [GRCh38]
Chr8:126059451 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.1650C>T (p.Ile550=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000861147] Chr8:125059414 [GRCh38]
Chr8:126071656 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.1346G>A (p.Arg449Gln) single nucleotide variant not provided [RCV000867433] Chr8:125063584 [GRCh38]
Chr8:126075826 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.1876-8C>T single nucleotide variant not provided [RCV000976081] Chr8:125056825 [GRCh38]
Chr8:126069067 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.1866T>C (p.Tyr622=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001158801]|not provided [RCV000868272] Chr8:125057565 [GRCh38]
Chr8:126069807 [GRCh37]
Chr8:8q24.13
likely benign|uncertain significance
NM_014846.4(WASHC5):c.2238G>A (p.Ala746=) single nucleotide variant not provided [RCV000864934] Chr8:125049147 [GRCh38]
Chr8:126061389 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.*337A>G single nucleotide variant Hereditary spastic paraplegia 8 [RCV001158690] Chr8:125024280 [GRCh38]
Chr8:126036522 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.3441G>A (p.Val1147=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001161908] Chr8:125024656 [GRCh38]
Chr8:126036898 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.625G>A (p.Glu209Lys) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001223135] Chr8:125078824 [GRCh38]
Chr8:126091066 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.875T>C (p.Ile292Thr) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001227387] Chr8:125075101 [GRCh38]
Chr8:126087343 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.3065T>C (p.Ile1022Thr) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001163432] Chr8:125038849 [GRCh38]
Chr8:126051091 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.1465G>T (p.Asp489Tyr) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001160151] Chr8:125061138 [GRCh38]
Chr8:126073380 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.1883A>G (p.Gln628Arg) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001055513] Chr8:125056810 [GRCh38]
Chr8:126069052 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.689G>A (p.Arg230Lys) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001224886] Chr8:125078760 [GRCh38]
Chr8:126091002 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.1728A>G (p.Pro576=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000889184] Chr8:125059258 [GRCh38]
Chr8:126071500 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.1892C>T (p.Pro631Leu) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001230127]|not provided [RCV000999065] Chr8:125056801 [GRCh38]
Chr8:126069043 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.720G>A (p.Ala240=) single nucleotide variant not provided [RCV000999067] Chr8:125076492 [GRCh38]
Chr8:126088734 [GRCh37]
Chr8:8q24.13
likely benign
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_014846.4(WASHC5):c.1351A>T (p.Thr451Ser) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001160152] Chr8:125063579 [GRCh38]
Chr8:126075821 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.-276G>A single nucleotide variant Hereditary spastic paraplegia 8 [RCV001160252] Chr8:125091766 [GRCh38]
Chr8:126104008 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.3118C>G (p.Pro1040Ala) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001163431] Chr8:125037300 [GRCh38]
Chr8:126049542 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.1211G>A (p.Arg404Gln) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001163528] Chr8:125067659 [GRCh38]
Chr8:126079901 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.*218T>C single nucleotide variant Hereditary spastic paraplegia 8 [RCV001158691] Chr8:125024399 [GRCh38]
Chr8:126036641 [GRCh37]
Chr8:8q24.13
benign
NM_014846.4(WASHC5):c.2667+10T>C single nucleotide variant Hereditary spastic paraplegia 8 [RCV001163716] Chr8:125044526 [GRCh38]
Chr8:126056768 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2627T>C (p.Leu876Ser) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001163717] Chr8:125044576 [GRCh38]
Chr8:126056818 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2199+14A>G single nucleotide variant Hereditary spastic paraplegia 8 [RCV001163721] Chr8:125050550 [GRCh38]
Chr8:126062792 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.1299A>G (p.Ser433=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001160153] Chr8:125063631 [GRCh38]
Chr8:126075873 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2332A>G (p.Ile778Val) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001035267]|Hereditary spastic paraplegia 8 [RCV001163719] Chr8:125049053 [GRCh38]
Chr8:126061295 [GRCh37]
Chr8:8q24.13
likely benign|uncertain significance
NM_014846.4(WASHC5):c.*177A>C single nucleotide variant Hereditary spastic paraplegia 8 [RCV001161907] Chr8:125024440 [GRCh38]
Chr8:126036682 [GRCh37]
Chr8:8q24.13
uncertain significance
NC_000008.11:g.(?_125024607)_(125044104_?)del deletion Hereditary spastic paraplegia 8 [RCV001031678] Chr8:126036849..126056346 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2457G>A (p.Thr819=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001163718] Chr8:125047254 [GRCh38]
Chr8:126059496 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.1705C>G (p.Gln569Glu) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001219723] Chr8:125059281 [GRCh38]
Chr8:126071523 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.712-9A>T single nucleotide variant See cases [RCV001196610] Chr8:125076509 [GRCh38]
Chr8:126088751 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.3329G>A (p.Cys1110Tyr) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001044136] Chr8:125032247 [GRCh38]
Chr8:126044489 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.3282G>A (p.Gln1094=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001163429] Chr8:125032294 [GRCh38]
Chr8:126044536 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.-69C>T single nucleotide variant Hereditary spastic paraplegia 8 [RCV001158912] Chr8:125083967 [GRCh38]
Chr8:126096209 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.863G>C (p.Trp288Ser) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001201560] Chr8:125076349 [GRCh38]
Chr8:126088591 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.518+6C>T single nucleotide variant Hereditary spastic paraplegia 8 [RCV001163830] Chr8:125081655 [GRCh38]
Chr8:126093897 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.3122T>C (p.Ile1041Thr) single nucleotide variant See cases [RCV001196556] Chr8:125037296 [GRCh38]
Chr8:126049538 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2410A>G (p.Thr804Ala) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001069580] Chr8:125047301 [GRCh38]
Chr8:126059543 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.735G>C (p.Glu245Asp) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001204701] Chr8:125076477 [GRCh38]
Chr8:126088719 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.739C>T (p.Arg247Cys) single nucleotide variant Inborn genetic diseases [RCV001266862] Chr8:125076473 [GRCh38]
Chr8:126088715 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.232C>T (p.Gln78Ter) single nucleotide variant Inborn genetic diseases [RCV001267231] Chr8:125083213 [GRCh38]
Chr8:126095455 [GRCh37]
Chr8:8q24.13
pathogenic
NM_014846.4(WASHC5):c.1133T>G (p.Leu378Arg) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV001262565] Chr8:125073170 [GRCh38]
Chr8:126085412 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2849A>G (p.Lys950Arg) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV001331907] Chr8:125043826 [GRCh38]
Chr8:126056068 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2489G>A (p.Arg830Gln) single nucleotide variant Inborn genetic diseases [RCV001267232] Chr8:125047222 [GRCh38]
Chr8:126059464 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2533A>G (p.Thr845Ala) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001331906] Chr8:125044670 [GRCh38]
Chr8:126056912 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.541T>A (p.Ser181Thr) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001315153] Chr8:125078908 [GRCh38]
Chr8:126091150 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.864+5G>C single nucleotide variant Spasticity [RCV001328496] Chr8:125076343 [GRCh38]
Chr8:126088585 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2257C>T (p.Arg753Cys) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV001331905] Chr8:125049128 [GRCh38]
Chr8:126061370 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.445A>G (p.Met149Val) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001302909] Chr8:125081734 [GRCh38]
Chr8:126093976 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.1037AAG[1] (p.Glu347del) microsatellite Hereditary spastic paraplegia 8 [RCV001313396] Chr8:125073261..125073263 [GRCh38]
Chr8:126085503..126085505 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.880A>C (p.Met294Leu) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001306064] Chr8:125075096 [GRCh38]
Chr8:126087338 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.122G>A (p.Arg41Lys) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001350859] Chr8:125083777 [GRCh38]
Chr8:126096019 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.1235A>G (p.Gln412Arg) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001321953] Chr8:125067635 [GRCh38]
Chr8:126079877 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.1424G>A (p.Trp475Ter) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001313795] Chr8:125061179 [GRCh38]
Chr8:126073421 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.334dup (p.Tyr112fs) duplication Ritscher-Schinzel syndrome 1 [RCV001335675] Chr8:125082465..125082466 [GRCh38]
Chr8:126094707..126094708 [GRCh37]
Chr8:8q24.13
pathogenic
NM_014846.4(WASHC5):c.2752C>T (p.Pro918Ser) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001340701] Chr8:125044010 [GRCh38]
Chr8:126056252 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2199G>A (p.Lys733=) single nucleotide variant Muscle weakness [RCV001328498] Chr8:125050564 [GRCh38]
Chr8:126062806 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.143A>G (p.Gln48Arg) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001313403] Chr8:125083756 [GRCh38]
Chr8:126095998 [GRCh37]
Chr8:8q24.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28984 AgrOrtholog
COSMIC WASHC5 COSMIC
Ensembl Genes ENSG00000164961 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000318016 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427946 UniProtKB/TrEMBL
  ENSP00000429676 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000318410 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517845 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000523297 UniProtKB/TrEMBL
GTEx ENSG00000164961 GTEx
HGNC ID HGNC:28984 ENTREZGENE
Human Proteome Map WASHC5 Human Proteome Map
InterPro WASH_strumpellin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9897 UniProtKB/Swiss-Prot
NCBI Gene 9897 ENTREZGENE
OMIM 220210 OMIM
  603563 OMIM
  610657 OMIM
PANTHER PTHR15691 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Strumpellin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671624 PharmGKB
UniProt E5RFU6_HUMAN UniProtKB/TrEMBL
  E7EQI7 ENTREZGENE, UniProtKB/TrEMBL
  Q12768 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K4R7 UniProtKB/Swiss-Prot
  Q3KQX5 UniProtKB/Swiss-Prot
  Q8TBQ2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-10-25 WASHC5  WASH complex subunit 5  KIAA0196  KIAA0196  Symbol and/or name change 5135510 APPROVED
2016-03-14 KIAA0196  KIAA0196  SPG8  spastic paraplegia 8 (autosomal dominant)  Data Merged 737654 PROVISIONAL
2011-08-23 KIAA0196  KIAA0196  KIAA0196  KIAA0196  Symbol and/or name change 5135510 APPROVED