SPAX2
MCID: SPS142
MIFTS: 33

Spastic Ataxia 2, Autosomal Recessive (SPAX2)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spastic Ataxia 2, Autosomal Recessive

MalaCards integrated aliases for Spastic Ataxia 2, Autosomal Recessive:

Name: Spastic Ataxia 2, Autosomal Recessive 57 72
Ataxia, Spastic, 2, Autosomal Recessive 29 6 70
Spax2 57 58 72
Ataxia, Spastic 2, Autosomal Recessive 13
Autosomal Spastic Paraplegia Type 58 58
Autosomal Spastic Ataxia Type 2 58
Spg58 58

Characteristics:

Orphanet epidemiological data:

58
autosomal spastic paraplegia type 58
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
patients remain ambulatory
onset in teenage years


HPO:

31
spastic ataxia 2, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spastic Ataxia 2, Autosomal Recessive

OMIM® : 57 Autosomal recessive spastic ataxia is a neurologic disorder characterized by onset in the first 2 decades of cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. Cognition is not affected (summary by Dor et al., 2014). For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600). (611302) (Updated 20-May-2021)

MalaCards based summary : Spastic Ataxia 2, Autosomal Recessive, also known as ataxia, spastic, 2, autosomal recessive, is related to spastic ataxia and aceruloplasminemia, and has symptoms including tremor, head titubation and muscular fasciculation. An important gene associated with Spastic Ataxia 2, Autosomal Recessive is KIF1C (Kinesin Family Member 1C). Affiliated tissues include eye, and related phenotypes are dysarthria and hypodontia

UniProtKB/Swiss-Prot : 72 Spastic ataxia 2, autosomal recessive: A neurologic disorder characterized by cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. Cognition is not affected.

Related Diseases for Spastic Ataxia 2, Autosomal Recessive

Symptoms & Phenotypes for Spastic Ataxia 2, Autosomal Recessive

Human phenotypes related to Spastic Ataxia 2, Autosomal Recessive:

58 31 (showing 34, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
2 hypodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000668
3 fasciculations 58 31 hallmark (90%) Very frequent (99-80%) HP:0002380
4 gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002066
5 abnormality of the cerebral white matter 58 31 hallmark (90%) Very frequent (99-80%) HP:0002500
6 spastic ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002497
7 lower limb hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002395
8 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
9 clonus 58 31 frequent (33%) Frequent (79-30%) HP:0002169
10 chorea 58 31 frequent (33%) Frequent (79-30%) HP:0002072
11 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
12 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
13 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
14 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
15 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
16 distal amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003693
17 horizontal nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000666
18 peripheral demyelination 58 31 frequent (33%) Frequent (79-30%) HP:0011096
19 titubation 58 31 frequent (33%) Frequent (79-30%) HP:0030187
20 erratic myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0025357
21 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
22 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
23 cerebellar atrophy 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001272
24 unsteady gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002317
25 intention tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002080
26 tip-toe gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0030051
27 reduced visual acuity 58 31 very rare (1%) Very rare (<4-1%) HP:0007663
28 peripheral neuropathy 58 31 very rare (1%) Very rare (<4-1%) HP:0009830
29 torticollis 58 31 very rare (1%) Very rare (<4-1%) HP:0000473
30 cerebral atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0002059
31 hyperreflexia 58 31 Occasional (29-5%) HP:0001347
32 abnormal pyramidal sign 58 Occasional (29-5%)
33 tremor 58 Frequent (79-30%)
34 head titubation 31 HP:0002599

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
tremor
dysmetria
fasciculations
more
Head And Neck Head:
head titubation

Head And Neck Eyes:
horizontal nystagmus

Muscle Soft Tissue:
distal muscle atrophy

Clinical features from OMIM®:

611302 (Updated 20-May-2021)

UMLS symptoms related to Spastic Ataxia 2, Autosomal Recessive:


tremor; head titubation; muscular fasciculation; cerebellar ataxia

GenomeRNAi Phenotypes related to Spastic Ataxia 2, Autosomal Recessive according to GeneCards Suite gene sharing:

26 (showing 1, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 8.62 INCA1 KIF1C

Drugs & Therapeutics for Spastic Ataxia 2, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Ataxia 2, Autosomal Recessive

Genetic Tests for Spastic Ataxia 2, Autosomal Recessive

Genetic tests related to Spastic Ataxia 2, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Ataxia, Spastic, 2, Autosomal Recessive 29 KIF1C

Anatomical Context for Spastic Ataxia 2, Autosomal Recessive

MalaCards organs/tissues related to Spastic Ataxia 2, Autosomal Recessive:

40
Eye

Publications for Spastic Ataxia 2, Autosomal Recessive

Articles related to Spastic Ataxia 2, Autosomal Recessive:

(showing 7, show less)
# Title Authors PMID Year
1
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. 61 57 6
24319291 2014
2
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 6 57
24482476 2014
3
A novel locus for autosomal recessive spastic ataxia on chromosome 17p. 57 6
17273843 2007
4
SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey. 6
28687974 2017
5
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
6
Motor protein mutations cause a new form of hereditary spastic paraplegia. 6
24808017 2014
7
Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination. 61
30067756 2018

Variations for Spastic Ataxia 2, Autosomal Recessive

ClinVar genetic disease variations for Spastic Ataxia 2, Autosomal Recessive:

6 (showing 120, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIF1C NM_006612.6(KIF1C):c.2191C>T (p.Arg731Ter) SNV Pathogenic 101066 rs587777197 GRCh37: 17:4925567-4925567
GRCh38: 17:5022272-5022272
2 INCA1 , KIF1C NM_006612.6(KIF1C):c.505C>T (p.Arg169Trp) SNV Pathogenic 101067 rs587777198 GRCh37: 17:4905834-4905834
GRCh38: 17:5002539-5002539
3 INCA1 , KIF1C NM_006612.6(KIF1C):c.183G>A (p.Ser61=) SNV Pathogenic 101068 rs886041035 GRCh37: 17:4904143-4904143
GRCh38: 17:5000848-5000848
4 KIF1C NC_000017.10:g.(4907452_4914761)_(4918508_4926045)del Deletion Pathogenic 101069 GRCh37: 17:4907452-4926045
GRCh38:
5 KIF1C NM_006612.6(KIF1C):c.2478del (p.Ala828fs) Deletion Pathogenic 265862 rs1131690773 GRCh37: 17:4925854-4925854
GRCh38: 17:5022559-5022559
6 INCA1 , KIF1C NM_006612.6(KIF1C):c.760C>T (p.Arg254Ter) SNV Pathogenic 1029057 GRCh37: 17:4906946-4906946
GRCh38: 17:5003651-5003651
7 INCA1 , KIF1C NM_006612.6(KIF1C):c.1039C>T (p.Gln347Ter) SNV Pathogenic 1032467 GRCh37: 17:4908169-4908169
GRCh38: 17:5004874-5004874
8 INCA1 , KIF1C NM_006612.6(KIF1C):c.646C>T (p.Arg216Cys) SNV Likely pathogenic 423907 rs1064796693 GRCh37: 17:4906063-4906063
GRCh38: 17:5002768-5002768
9 INCA1 , KIF1C NM_006612.6(KIF1C):c.527C>T (p.Pro176Leu) SNV Likely pathogenic 872583 GRCh37: 17:4905856-4905856
GRCh38: 17:5002561-5002561
10 KIF1C NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu) SNV Conflicting interpretations of pathogenicity 209166 rs148934699 GRCh37: 17:4925475-4925475
GRCh38: 17:5022180-5022180
11 KIF1C NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp) SNV Conflicting interpretations of pathogenicity 209167 rs202232792 GRCh37: 17:4926868-4926868
GRCh38: 17:5023573-5023573
12 INCA1 , KIF1C NM_006612.6(KIF1C):c.116A>G (p.Asn39Ser) SNV Uncertain significance 536734 rs1368090910 GRCh37: 17:4904076-4904076
GRCh38: 17:5000781-5000781
13 INCA1 , KIF1C NM_006612.6(KIF1C):c.682C>T (p.Arg228Cys) SNV Uncertain significance 567068 rs141189136 GRCh37: 17:4906099-4906099
GRCh38: 17:5002804-5002804
14 KIF1C NM_006612.6(KIF1C):c.2591G>A (p.Arg864His) SNV Uncertain significance 424676 rs146628704 GRCh37: 17:4925967-4925967
GRCh38: 17:5022672-5022672
15 KIF1C NM_006612.6(KIF1C):c.1571+5C>T SNV Uncertain significance 838308 GRCh37: 17:4917032-4917032
GRCh38: 17:5013737-5013737
16 INCA1 , KIF1C NM_006612.6(KIF1C):c.1165+3C>T SNV Uncertain significance 845618 GRCh37: 17:4908298-4908298
GRCh38: 17:5005003-5005003
17 INCA1 , KIF1C NM_006612.6(KIF1C):c.798+5G>A SNV Uncertain significance 835940 GRCh37: 17:4906989-4906989
GRCh38: 17:5003694-5003694
18 KIF1C NM_006612.6(KIF1C):c.1353A>G (p.Ile451Met) SNV Uncertain significance 841377 GRCh37: 17:4910575-4910575
GRCh38: 17:5007280-5007280
19 KIF1C NM_006612.6(KIF1C):c.3302del (p.Ala1101fs) Deletion Uncertain significance 845903 GRCh37: 17:4927436-4927436
GRCh38: 17:5024141-5024141
20 KIF1C NM_006612.6(KIF1C):c.3292G>A (p.Glu1098Lys) SNV Uncertain significance 967691 GRCh37: 17:4927426-4927426
GRCh38: 17:5024131-5024131
21 KIF1C NM_006612.6(KIF1C):c.3088C>T (p.Arg1030Cys) SNV Uncertain significance 570542 rs62072492 GRCh37: 17:4927222-4927222
GRCh38: 17:5023927-5023927
22 KIF1C NM_006612.6(KIF1C):c.3236C>A (p.Pro1079His) SNV Uncertain significance 1032468 GRCh37: 17:4927370-4927370
GRCh38: 17:5024075-5024075
23 KIF1C NM_006612.6(KIF1C):c.2819G>A (p.Arg940His) SNV Uncertain significance 1035653 GRCh37: 17:4926953-4926953
GRCh38: 17:5023658-5023658
24 KIF1C NM_006612.6(KIF1C):c.2650G>A (p.Glu884Lys) SNV Uncertain significance 1036104 GRCh37: 17:4926784-4926784
GRCh38: 17:5023489-5023489
25 KIF1C NM_006612.6(KIF1C):c.2368G>A (p.Asp790Asn) SNV Uncertain significance 1039126 GRCh37: 17:4925744-4925744
GRCh38: 17:5022449-5022449
26 KIF1C NM_006612.6(KIF1C):c.2920G>A (p.Asp974Asn) SNV Uncertain significance 450100 rs550136320 GRCh37: 17:4927054-4927054
GRCh38: 17:5023759-5023759
27 KIF1C NM_006612.6(KIF1C):c.1302G>C (p.Gln434His) SNV Uncertain significance 958342 GRCh37: 17:4910346-4910346
GRCh38: 17:5007051-5007051
28 KIF1C NM_006612.6(KIF1C):c.2377G>A (p.Gly793Arg) SNV Uncertain significance 964685 GRCh37: 17:4925753-4925753
GRCh38: 17:5022458-5022458
29 KIF1C NM_006612.6(KIF1C):c.3277G>A (p.Ala1093Thr) SNV Uncertain significance 1061183 GRCh37: 17:4927411-4927411
GRCh38: 17:5024116-5024116
30 KIF1C NM_006612.6(KIF1C):c.3050C>T (p.Ala1017Val) SNV Uncertain significance 1061938 GRCh37: 17:4927184-4927184
GRCh38: 17:5023889-5023889
31 INCA1 , KIF1C NM_006612.6(KIF1C):c.657C>A (p.Ala219=) SNV Uncertain significance 1062849 GRCh37: 17:4906074-4906074
GRCh38: 17:5002779-5002779
32 KIF1C NM_006612.6(KIF1C):c.1261G>C (p.Gly421Arg) SNV Uncertain significance 999483 GRCh37: 17:4910305-4910305
GRCh38: 17:5007010-5007010
33 KIF1C NM_006612.6(KIF1C):c.3121C>T (p.Arg1041Trp) SNV Uncertain significance 1004180 GRCh37: 17:4927255-4927255
GRCh38: 17:5023960-5023960
34 KIF1C NM_006612.6(KIF1C):c.3140A>G (p.Gln1047Arg) SNV Uncertain significance 1004730 GRCh37: 17:4927274-4927274
GRCh38: 17:5023979-5023979
35 KIF1C NM_006612.6(KIF1C):c.2961C>G (p.His987Gln) SNV Uncertain significance 1006037 GRCh37: 17:4927095-4927095
GRCh38: 17:5023800-5023800
36 INCA1 , KIF1C NM_006612.6(KIF1C):c.363+5G>A SNV Uncertain significance 663147 rs371500484 GRCh37: 17:4904701-4904701
GRCh38: 17:5001406-5001406
37 KIF1C NM_006612.6(KIF1C):c.3070C>T (p.Arg1024Ter) SNV Uncertain significance 852668 GRCh37: 17:4927204-4927204
GRCh38: 17:5023909-5023909
38 KIF1C NM_006612.6(KIF1C):c.1852C>T (p.Pro618Ser) SNV Uncertain significance 852848 GRCh37: 17:4923888-4923888
GRCh38: 17:5020593-5020593
39 INCA1 , KIF1C NM_006612.6(KIF1C):c.714G>A (p.Ser238=) SNV Uncertain significance 872584 GRCh37: 17:4906131-4906131
GRCh38: 17:5002836-5002836
40 KIF1C NM_006612.6(KIF1C):c.2777G>A (p.Arg926Gln) SNV Uncertain significance 1015990 GRCh37: 17:4926911-4926911
GRCh38: 17:5023616-5023616
41 INCA1 , KIF1C NM_006612.6(KIF1C):c.363+4C>T SNV Uncertain significance 1017991 GRCh37: 17:4904700-4904700
GRCh38: 17:5001405-5001405
42 KIF1C NM_006612.6(KIF1C):c.2293C>T (p.Arg765Cys) SNV Uncertain significance 1019219 GRCh37: 17:4925669-4925669
GRCh38: 17:5022374-5022374
43 KIF1C NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg) SNV Uncertain significance 450099 rs142046798 GRCh37: 17:4910568-4910568
GRCh38: 17:5007273-5007273
44 KIF1C NM_006612.6(KIF1C):c.2567G>A (p.Arg856Gln) SNV Uncertain significance 1023409 GRCh37: 17:4925943-4925943
GRCh38: 17:5022648-5022648
45 KIF1C NM_006612.6(KIF1C):c.2429A>C (p.Glu810Ala) SNV Uncertain significance 652160 rs182610831 GRCh37: 17:4925805-4925805
GRCh38: 17:5022510-5022510
46 KIF1C NM_006612.6(KIF1C):c.2578G>A (p.Ala860Thr) SNV Uncertain significance 432326 rs143671350 GRCh37: 17:4925954-4925954
GRCh38: 17:5022659-5022659
47 INCA1 , KIF1C NM_006612.6(KIF1C):c.385C>T (p.Arg129Cys) SNV Uncertain significance 851980 GRCh37: 17:4905375-4905375
GRCh38: 17:5002080-5002080
48 KIF1C NM_006612.6(KIF1C):c.2006G>A (p.Arg669Gln) SNV Uncertain significance 916438 GRCh37: 17:4924169-4924169
GRCh38: 17:5020874-5020874
49 KIF1C NM_006612.6(KIF1C):c.2366C>T (p.Pro789Leu) SNV Uncertain significance 942459 GRCh37: 17:4925742-4925742
GRCh38: 17:5022447-5022447
50 KIF1C NM_006612.6(KIF1C):c.1387C>T (p.Arg463Cys) SNV Uncertain significance 808201 rs759516774 GRCh37: 17:4910609-4910609
GRCh38: 17:5007314-5007314
51 INCA1 , KIF1C NM_006612.6(KIF1C):c.499C>T (p.Arg167Trp) SNV Uncertain significance 468858 rs185479618 GRCh37: 17:4905828-4905828
GRCh38: 17:5002533-5002533
52 INCA1 , KIF1C NM_006612.6(KIF1C):c.697C>T (p.Leu233Phe) SNV Uncertain significance 813900 rs1361059674 GRCh37: 17:4906114-4906114
GRCh38: 17:5002819-5002819
53 INCA1 , KIF1C NM_006612.6(KIF1C):c.568G>A (p.Ala190Thr) SNV Uncertain significance 1029055 GRCh37: 17:4905897-4905897
GRCh38: 17:5002602-5002602
54 INCA1 , KIF1C NM_006612.6(KIF1C):c.701C>T (p.Thr234Met) SNV Uncertain significance 1029056 GRCh37: 17:4906118-4906118
GRCh38: 17:5002823-5002823
55 INCA1 , KIF1C NM_006612.6(KIF1C):c.14C>T (p.Ser5Leu) SNV Uncertain significance 565364 rs747424547 GRCh37: 17:4903555-4903555
GRCh38: 17:5000260-5000260
56 KIF1C NM_006612.6(KIF1C):c.2701G>A (p.Glu901Lys) SNV Uncertain significance 571325 rs751072487 GRCh37: 17:4926835-4926835
GRCh38: 17:5023540-5023540
57 KIF1C NM_006612.6(KIF1C):c.1323G>T (p.Met441Ile) SNV Uncertain significance 577183 rs1567722733 GRCh37: 17:4910367-4910367
GRCh38: 17:5007072-5007072
58 KIF1C NM_006612.6(KIF1C):c.2951A>C (p.Asn984Thr) SNV Uncertain significance 577751 rs372031774 GRCh37: 17:4927085-4927085
GRCh38: 17:5023790-5023790
59 KIF1C NM_006612.6(KIF1C):c.2522C>T (p.Thr841Met) SNV Uncertain significance 578726 rs780729030 GRCh37: 17:4925898-4925898
GRCh38: 17:5022603-5022603
60 KIF1C NM_006612.6(KIF1C):c.2748_2749delinsGA (p.Pro917Thr) Indel Uncertain significance 468855 rs1555571945 GRCh37: 17:4926882-4926883
GRCh38: 17:5023587-5023588
61 KIF1C NM_006612.6(KIF1C):c.2711C>G (p.Pro904Arg) SNV Uncertain significance 468854 rs1395728872 GRCh37: 17:4926845-4926845
GRCh38: 17:5023550-5023550
62 KIF1C NM_006612.6(KIF1C):c.3062C>T (p.Pro1021Leu) SNV Uncertain significance 468857 rs369620316 GRCh37: 17:4927196-4927196
GRCh38: 17:5023901-5023901
63 overlap with 11 genes NC_000017.11:g.(?_4898726)_(5024161_?)dup Duplication Uncertain significance 831955 GRCh37: 17:4802021-4927456
GRCh38:
64 INCA1 , KIF1C NM_006612.6(KIF1C):c.37C>T (p.Arg13Trp) SNV Uncertain significance 536732 rs756071061 GRCh37: 17:4903578-4903578
GRCh38: 17:5000283-5000283
65 KIF1C NM_006612.6(KIF1C):c.2485G>A (p.Glu829Lys) SNV Uncertain significance 536733 rs539082919 GRCh37: 17:4925861-4925861
GRCh38: 17:5022566-5022566
66 KIF1C NM_006612.6(KIF1C):c.2719C>T (p.Arg907Cys) SNV Uncertain significance 536735 rs758990694 GRCh37: 17:4926853-4926853
GRCh38: 17:5023558-5023558
67 INCA1 , KIF1C NM_006612.6(KIF1C):c.798+3G>T SNV Uncertain significance 639076 rs777181739 GRCh37: 17:4906987-4906987
GRCh38: 17:5003692-5003692
68 INCA1 , KIF1C NM_006612.6(KIF1C):c.608+2_608+3dup Duplication Uncertain significance 640687 rs1597841997 GRCh37: 17:4905937-4905938
GRCh38: 17:5002642-5002643
69 KIF1C NM_006612.6(KIF1C):c.2999C>T (p.Pro1000Leu) SNV Uncertain significance 80584 rs267604960 GRCh37: 17:4927133-4927133
GRCh38: 17:5023838-5023838
70 INCA1 , KIF1C NM_006612.6(KIF1C):c.223C>T (p.Arg75Trp) SNV Uncertain significance 645476 rs201085674 GRCh37: 17:4904556-4904556
GRCh38: 17:5001261-5001261
71 INCA1 , KIF1C NM_006612.6(KIF1C):c.500G>A (p.Arg167Gln) SNV Uncertain significance 645785 rs199962814 GRCh37: 17:4905829-4905829
GRCh38: 17:5002534-5002534
72 INCA1 , KIF1C NM_006612.6(KIF1C):c.126G>C (p.Gln42His) SNV Uncertain significance 648718 rs202033753 GRCh37: 17:4904086-4904086
GRCh38: 17:5000791-5000791
73 KIF1C NM_006612.6(KIF1C):c.3098C>T (p.Ser1033Phe) SNV Uncertain significance 649471 rs779584975 GRCh37: 17:4927232-4927232
GRCh38: 17:5023937-5023937
74 KIF1C NM_006612.6(KIF1C):c.3005C>T (p.Pro1002Leu) SNV Uncertain significance 653225 rs143987985 GRCh37: 17:4927139-4927139
GRCh38: 17:5023844-5023844
75 KIF1C NM_006612.6(KIF1C):c.3128C>T (p.Ala1043Val) SNV Uncertain significance 654742 rs373541138 GRCh37: 17:4927262-4927262
GRCh38: 17:5023967-5023967
76 INCA1 , KIF1C NM_006612.6(KIF1C):c.1115G>A (p.Arg372Gln) SNV Uncertain significance 655191 rs367997542 GRCh37: 17:4908245-4908245
GRCh38: 17:5004950-5004950
77 KIF1C NM_006612.6(KIF1C):c.1847G>A (p.Gly616Glu) SNV Uncertain significance 657608 rs1283601775 GRCh37: 17:4923883-4923883
GRCh38: 17:5020588-5020588
78 KIF1C NM_006612.6(KIF1C):c.2216C>T (p.Pro739Leu) SNV Uncertain significance 663676 rs376385209 GRCh37: 17:4925592-4925592
GRCh38: 17:5022297-5022297
79 INCA1 , KIF1C NM_006612.6(KIF1C):c.352A>C (p.Ile118Leu) SNV Uncertain significance 663783 rs757847238 GRCh37: 17:4904685-4904685
GRCh38: 17:5001390-5001390
80 INCA1 , KIF1C NM_006612.6(KIF1C):c.577G>A (p.Ala193Thr) SNV Uncertain significance 664428 rs754938138 GRCh37: 17:4905906-4905906
GRCh38: 17:5002611-5002611
81 INCA1 , KIF1C NM_006612.6(KIF1C):c.899A>T (p.Tyr300Phe) SNV Uncertain significance 665779 rs760721111 GRCh37: 17:4907327-4907327
GRCh38: 17:5004032-5004032
82 KIF1C NM_006612.6(KIF1C):c.3198A>G (p.Gln1066=) SNV Likely benign 702198 rs143972053 GRCh37: 17:4927332-4927332
GRCh38: 17:5024037-5024037
83 INCA1 , KIF1C NM_006612.6(KIF1C):c.732C>G (p.Ile244Met) SNV Likely benign 702346 rs139697370 GRCh37: 17:4906918-4906918
GRCh38: 17:5003623-5003623
84 KIF1C NM_006612.6(KIF1C):c.1572-3C>T SNV Likely benign 703846 rs141461209 GRCh37: 17:4918035-4918035
GRCh38: 17:5014740-5014740
85 KIF1C NM_006612.6(KIF1C):c.1571+6G>A SNV Likely benign 704115 rs200438845 GRCh37: 17:4917033-4917033
GRCh38: 17:5013738-5013738
86 INCA1 , KIF1C NM_006612.6(KIF1C):c.1065C>T (p.Asn355=) SNV Likely benign 704571 rs576640333 GRCh37: 17:4908195-4908195
GRCh38: 17:5004900-5004900
87 KIF1C-AS1 , KIF1C NM_006612.6(KIF1C):c.1750+6_1750+8del Microsatellite Likely benign 705102 rs551276433 GRCh37: 17:4923377-4923379
GRCh38: 17:5020082-5020084
88 INCA1 , KIF1C NM_006612.6(KIF1C):c.339A>G (p.Pro113=) SNV Likely benign 536736 rs142773987 GRCh37: 17:4904672-4904672
GRCh38: 17:5001377-5001377
89 KIF1C NM_006612.6(KIF1C):c.1962C>T (p.Tyr654=) SNV Likely benign 705594 rs113561684 GRCh37: 17:4924125-4924125
GRCh38: 17:5020830-5020830
90 INCA1 , KIF1C NM_006612.6(KIF1C):c.765C>T (p.Ala255=) SNV Likely benign 708248 rs755969023 GRCh37: 17:4906951-4906951
GRCh38: 17:5003656-5003656
91 INCA1 , KIF1C NM_006612.6(KIF1C):c.1136C>G (p.Ala379Gly) SNV Likely benign 468849 rs79290524 GRCh37: 17:4908266-4908266
GRCh38: 17:5004971-5004971
92 KIF1C NM_006612.6(KIF1C):c.2676G>A (p.Pro892=) SNV Likely benign 536737 rs200822779 GRCh37: 17:4926810-4926810
GRCh38: 17:5023515-5023515
93 KIF1C NM_006612.6(KIF1C):c.2523G>C (p.Thr841=) SNV Likely benign 468853 rs747321053 GRCh37: 17:4925899-4925899
GRCh38: 17:5022604-5022604
94 KIF1C NM_006612.6(KIF1C):c.3272G>A (p.Arg1091His) SNV Likely benign 435640 rs201800868 GRCh37: 17:4927406-4927406
GRCh38: 17:5024111-5024111
95 INCA1 , KIF1C NM_006612.6(KIF1C):c.18G>A (p.Val6=) SNV Likely benign 468851 rs148361794 GRCh37: 17:4903559-4903559
GRCh38: 17:5000264-5000264
96 INCA1 , KIF1C NM_006612.6(KIF1C):c.430-6A>T SNV Likely benign 754291 rs749747498 GRCh37: 17:4905753-4905753
GRCh38: 17:5002458-5002458
97 KIF1C NM_006612.6(KIF1C):c.1563C>T (p.Gly521=) SNV Likely benign 767121 rs376123205 GRCh37: 17:4917019-4917019
GRCh38: 17:5013724-5013724
98 KIF1C NM_006612.6(KIF1C):c.2481G>A (p.Gly827=) SNV Likely benign 468852 rs146679209 GRCh37: 17:4925857-4925857
GRCh38: 17:5022562-5022562
99 KIF1C NM_006612.6(KIF1C):c.3071G>A (p.Arg1024Gln) SNV Likely benign 390925 rs141225452 GRCh37: 17:4927205-4927205
GRCh38: 17:5023910-5023910
100 INCA1 , KIF1C NM_006612.6(KIF1C):c.1111G>A (p.Ala371Thr) SNV Likely benign 424675 rs142056835 GRCh37: 17:4908241-4908241
GRCh38: 17:5004946-5004946
101 KIF1C NM_006612.6(KIF1C):c.2299G>A (p.Gly767Arg) SNV Likely benign 424674 rs118037269 GRCh37: 17:4925675-4925675
GRCh38: 17:5022380-5022380
102 INCA1 , KIF1C NM_006612.6(KIF1C):c.1165+4G>A SNV Benign 445377 rs192489748 GRCh37: 17:4908299-4908299
GRCh38: 17:5005004-5005004
103 KIF1C NM_006612.6(KIF1C):c.2105C>T (p.Thr702Ile) SNV Benign 390510 rs138935423 GRCh37: 17:4925481-4925481
GRCh38: 17:5022186-5022186
104 INCA1 , KIF1C NM_006612.6(KIF1C):c.866A>C (p.Gln289Pro) SNV Benign 425119 rs146872023 GRCh37: 17:4907294-4907294
GRCh38: 17:5003999-5003999
105 KIF1C NM_006612.6(KIF1C):c.1815G>A (p.Leu605=) SNV Benign 385064 rs78356534 GRCh37: 17:4923851-4923851
GRCh38: 17:5020556-5020556
106 KIF1C NM_006612.6(KIF1C):c.2726C>A (p.Pro909Gln) SNV Benign 383663 rs78970955 GRCh37: 17:4926860-4926860
GRCh38: 17:5023565-5023565
107 KIF1C NM_006612.6(KIF1C):c.1293G>A (p.Thr431=) SNV Benign 380883 rs35919356 GRCh37: 17:4910337-4910337
GRCh38: 17:5007042-5007042
108 INCA1 , KIF1C NM_006612.6(KIF1C):c.153C>T (p.Thr51=) SNV Benign 383662 rs147583562 GRCh37: 17:4904113-4904113
GRCh38: 17:5000818-5000818
109 KIF1C NM_006612.6(KIF1C):c.1656A>G (p.Pro552=) SNV Benign 387793 rs57144955 GRCh37: 17:4918122-4918122
GRCh38: 17:5014827-5014827
110 KIF1C NM_006612.6(KIF1C):c.2298C>T (p.His766=) SNV Benign 387794 rs73345356 GRCh37: 17:4925674-4925674
GRCh38: 17:5022379-5022379
111 KIF1C NM_006612.6(KIF1C):c.1166-8C>T SNV Benign 468850 rs114935927 GRCh37: 17:4910202-4910202
GRCh38: 17:5006907-5006907
112 KIF1C NM_006612.6(KIF1C):c.1751-7T>A SNV Benign 385057 rs148404628 GRCh37: 17:4923780-4923780
GRCh38: 17:5020485-5020485
113 INCA1 , KIF1C NM_006612.6(KIF1C):c.720+20dup Duplication Benign 468859 rs10533622 GRCh37: 17:4906146-4906147
GRCh38: 17:5002851-5002852
114 KIF1C NM_006612.6(KIF1C):c.2987G>A (p.Ser996Asn) SNV Benign 468856 rs115332491 GRCh37: 17:4927121-4927121
GRCh38: 17:5023826-5023826
115 KIF1C NM_006612.6(KIF1C):c.1605C>T (p.Thr535=) SNV Benign 745529 rs145893640 GRCh37: 17:4918071-4918071
GRCh38: 17:5014776-5014776
116 KIF1C NM_006612.6(KIF1C):c.3049G>A (p.Ala1017Thr) SNV Benign 705789 rs185185243 GRCh37: 17:4927183-4927183
GRCh38: 17:5023888-5023888
117 KIF1C NM_006612.6(KIF1C):c.2325C>T (p.Ala775=) SNV Benign 706693 rs113398149 GRCh37: 17:4925701-4925701
GRCh38: 17:5022406-5022406
118 INCA1 , KIF1C NM_006612.6(KIF1C):c.184-8T>C SNV Benign 705287 rs192384276 GRCh37: 17:4904509-4904509
GRCh38: 17:5001214-5001214
119 INCA1 , KIF1C NM_006612.6(KIF1C):c.885G>A (p.Ser295=) SNV Benign 705424 rs148489739 GRCh37: 17:4907313-4907313
GRCh38: 17:5004018-5004018
120 KIF1C NM_006612.6(KIF1C):c.2646T>C (p.Asn882=) SNV Benign 705540 rs77312856 GRCh37: 17:4926780-4926780
GRCh38: 17:5023485-5023485

UniProtKB/Swiss-Prot genetic disease variations for Spastic Ataxia 2, Autosomal Recessive:

72 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 KIF1C p.Arg169Trp VAR_070937 rs587777198

Expression for Spastic Ataxia 2, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Ataxia 2, Autosomal Recessive.

Pathways for Spastic Ataxia 2, Autosomal Recessive

GO Terms for Spastic Ataxia 2, Autosomal Recessive

Sources for Spastic Ataxia 2, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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29 GTR
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
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