chr11:104901064:G>A Detail (hg19) (CASP1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr11:104,901,064-104,901,064
hg38	chr11:105,030,337-105,030,337 View the variant detail on this assembly version.

HGVS

CASP1

Type	Transcript	Protein
RefSeq	NM_033293.3:c.341C>T	NP_150635.1:p.Thr114Ile
	NM_001257118.2:c.620C>T	NP_001244047.1:p.Thr207Ile
	NM_001257119.2:c.557C>T	NP_001244048.1:p.Thr186Ile
	NM_001223.4:c.509C>T	NP_001214.1:p.Thr170Ile
	NM_033292.3:c.620C>T	NP_150634.1:p.Thr207Ile
Ensemble	ENST00000695718.1:c.503C>T	ENST00000695718.1:p.Thr168Ile
	ENST00000695720.1:c.620C>T	ENST00000695720.1:p.Thr207Ile
	ENST00000534497.5:c.341C>T	ENST00000534497.5:p.Thr114Ile
	ENST00000695719.1:c.557C>T	ENST00000695719.1:p.Thr186Ile
	ENST00000526568.5:c.341C>T	ENST00000526568.5:p.Thr114Ile
	ENST00000533400.6:c.620C>T	ENST00000533400.6:p.Thr207Ile
	ENST00000695722.1:c.503C>T	ENST00000695722.1:p.Thr168Ile
	ENST00000531166.5:c.59-3386C>T
	ENST00000695721.1:c.503C>T	ENST00000695721.1:p.Thr168Ile
	ENST00000695715.1:c.503C>T	ENST00000695715.1:p.Thr168Ile
	ENST00000525825.6:c.557C>T	ENST00000525825.6:p.Thr186Ile
	ENST00000527979.5:c.509C>T	ENST00000527979.5:p.Thr170Ile
	ENST00000436863.7:c.620C>T	ENST00000436863.7:p.Thr207Ile
	ENST00000695717.1:c.503C>T	ENST00000695717.1:p.Thr168Ile
	ENST00000528974.1:c.503C>T	ENST00000528974.1:p.Thr168Ile

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

CASP1

Type	Database	ID	Link
Gene	MIM	147678	OMIM
	HGNC	1499	HGNC
	Ensembl	ENSG00000137752	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	AMYOTROPHIC LATERAL SCLEROSIS 1	Activation of caspase-1 and caspase-3 is observed also in neuroblastoma lines ex...	BeFree	15208263	Detail
<0.001	glioblastoma	Activation of caspase-1 and caspase-3 is observed also in neuroblastoma lines ex...	BeFree	15208263	Detail
0.002	Central neuroblastoma	Activation of caspase-1 and caspase-3 is observed also in neuroblastoma lines ex...	BeFree	15208263	Detail
0.007	neuroblastoma	Activation of caspase-1 and caspase-3 is observed also in neuroblastoma lines ex...	BeFree	15208263	Detail
0.009	glioblastoma	Activation of caspase-1 and caspase-3 is observed also in neuroblastoma lines ex...	BeFree	15208263	Detail
0.002	neuroblastoma	Activation of caspase-1 and caspase-3 is observed also in neuroblastoma lines ex...	BeFree	15208263	Detail
0.007	Central neuroblastoma	Activation of caspase-1 and caspase-3 is observed also in neuroblastoma lines ex...	BeFree	15208263	Detail
0.121	AMYOTROPHIC LATERAL SCLEROSIS 1	Activation of caspase-1 and caspase-3 is observed also in neuroblastoma lines ex...	BeFree	15208263	Detail

Annotation

Annotations

Descrption	Source	Links
Activation of caspase-1 and caspase-3 is observed also in neuroblastoma lines expressing other fALS-...	DisGeNET	Detail
Activation of caspase-1 and caspase-3 is observed also in neuroblastoma lines expressing other fALS-...	DisGeNET	Detail
Activation of caspase-1 and caspase-3 is observed also in neuroblastoma lines expressing other fALS-...	DisGeNET	Detail
Activation of caspase-1 and caspase-3 is observed also in neuroblastoma lines expressing other fALS-...	DisGeNET	Detail
Activation of caspase-1 and caspase-3 is observed also in neuroblastoma lines expressing other fALS-...	DisGeNET	Detail
Activation of caspase-1 and caspase-3 is observed also in neuroblastoma lines expressing other fALS-...	DisGeNET	Detail
Activation of caspase-1 and caspase-3 is observed also in neuroblastoma lines expressing other fALS-...	DisGeNET	Detail
Activation of caspase-1 and caspase-3 is observed also in neuroblastoma lines expressing other fALS-...	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: chr11:104,901,064-104,901,064
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8652
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 119782
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.348499774590506E-6

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