chr11:71996539:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr11:71,996,539-72,145,673
hg38 chr11:72,285,495-72,434,629 

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 chronic granulomatous disease Levels of bacterial stress response genes, including the ClpB gene, increased du... BeFree 26283340 Detail
<0.001 Encephalopathies Disruption of CLPB is associated with congenital microcephaly, severe encephalop... BeFree 25650066 Detail
<0.001 Neonatal encephalopathy Altogether, our study suggests that disruption of CLPB causes a novel form of ne... BeFree 25650066 Detail
<0.001 Cerebral atrophy Suppression of clpb in zebrafish embryos induced a central nervous system phenot... BeFree 25597510 Detail
<0.001 Congenital neutropenia Additionally, we show that CLPB interacts biochemically with ATP2A2, known to be... BeFree 25597510 Detail
<0.001 3-@METHYLGLUTACONIC ACIDURIA, TYPE I CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, int... BeFree 25597510 Detail
<0.001 3-@METHYLGLUTACONIC ACIDURIA, TYPE I Disruption of CLPB is associated with congenital microcephaly, severe encephalop... BeFree 25650066 Detail
<0.001 severe congenital neutropenia Additionally, we show that CLPB interacts biochemically with ATP2A2, known to be... BeFree 25597510 Detail
<0.001 3-methylglutaconic aciduria CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, int... BeFree 25597510 Detail
<0.001 3-methylglutaconic aciduria Disruption of CLPB is associated with congenital microcephaly, severe encephalop... BeFree 25650066 Detail
<0.001 intellectual disability Taken together, mutations in CLPB define a syndrome with intellectual disability... BeFree 25597510 Detail
<0.001 Severe Congenital Microcephaly Disruption of CLPB is associated with congenital microcephaly, severe encephalop... BeFree 25650066 Detail
Annotation

Annotations

DescrptionSourceLinks
Levels of bacterial stress response genes, including the ClpB gene, increased during phagocytosis by... DisGeNET Detail
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglu... DisGeNET Detail
Altogether, our study suggests that disruption of CLPB causes a novel form of neonatal encephalopath... DisGeNET Detail
Suppression of clpb in zebrafish embryos induced a central nervous system phenotype that was consist... DisGeNET Detail
Additionally, we show that CLPB interacts biochemically with ATP2A2, known to be involved in apoptot... DisGeNET Detail
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability... DisGeNET Detail
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglu... DisGeNET Detail
Additionally, we show that CLPB interacts biochemically with ATP2A2, known to be involved in apoptot... DisGeNET Detail
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability... DisGeNET Detail
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglu... DisGeNET Detail
Taken together, mutations in CLPB define a syndrome with intellectual disability, congenital neutrop... DisGeNET Detail
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglu... 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
chr11:71,996,539-72,145,673
Variant Type
snv
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