chr12:57943810:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr12:57,943,810-57,980,416
hg38 chr12:57,550,027-57,586,633 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Charcot-Marie-Tooth disease The set of mutations in KIF5A described so far account for a spectrum of clinica... BeFree 25695920 Detail
0.003 Diabetes Mellitus, Insulin-Dependent NA BeFree,GAD Detail
<0.001 Dysautonomia NA BeFree Detail
0.003 multiple sclerosis NA BeFree,GAD Detail
<0.001 schizophrenia NA BeFree Detail
<0.001 Paraparesis, Spastic A novel KIF5A mutation in an Italian family marked by spastic paraparesis and co... BeFree 24939576 Detail
0.008 Spastic Paraplegia, Hereditary NA BeFree,LHGDN Detail
<0.001 Pyramidal sign NA BeFree Detail
<0.001 Hereditary Motor and Sensory-Neuropathy Type II NA BeFree Detail
<0.001 axonal neuropathy A novel mutation in motor domain of KIF5A associated with an HSP/axonal neuropat... BeFree 25695920 Detail
<0.001 Congenital deafness A novel KIF5A mutation in an Italian family marked by spastic paraparesis and co... BeFree 24939576 Detail
<0.001 Pure hereditary spastic paraplegia NA BeFree Detail
<0.001 Classical Lissencephaly NA BeFree Detail
<0.001 neuropathy NA BeFree Detail
<0.001 breast carcinoma NA BeFree Detail
0.001 Hereditary Autosomal Dominant Spastic Paraplegia SPG10 is an autosomal dominant hereditary spastic paraplegia (HSP) caused by mut... BeFree 25695920 Detail
<0.001 Autonomic nervous system disorders NA BeFree Detail
<0.001 Peripheral axonal neuropathy We stress the concept that detection of a peripheral axonal neuropathy in an aut... BeFree 25695920 Detail
0.003 Juvenile arthritis NA BeFree,GAD Detail
<0.001 juvenile rheumatoid arthritis NA BeFree Detail
<0.001 Arthritis, Psoriatic NA BeFree Detail
0.254 rheumatoid arthritis NA BeFree,CTD_human,GAD,GWASCAT Detail
<0.001 Autoimmune Diseases NA BeFree Detail
<0.001 Malignant neoplasm of breast NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
The set of mutations in KIF5A described so far account for a spectrum of clinical heterogeneity rang... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
A novel mutation in motor domain of KIF5A associated with an HSP/axonal neuropathy phenotype. DisGeNET Detail
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
SPG10 is an autosomal dominant hereditary spastic paraplegia (HSP) caused by mutations in the gene K... DisGeNET Detail
NA DisGeNET Detail
We stress the concept that detection of a peripheral axonal neuropathy in an autosomal dominant HSP ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr12:57,943,810-57,980,416
Variant Type
snv
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