chr1:15844718:G>A Detail (hg19) (CASP9)

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

Genome

Assembly	Position
hg19	chr1:15,844,718-15,844,718
hg38	chr1:15,518,223-15,518,223 View the variant detail on this assembly version.

HGVS

CASP9

Type	Transcript	Protein
RefSeq	NM_001229.4:c.305C>T	NP_001220.2:p.Thr102Ile
	NR_102732.1:c.305C>T
	NR_102733.1:c.305C>T
	NM_032996.3:c.56C>T	NP_127463.2:p.Thr19Ile
	NM_001278054.1:c.305C>T	NP_001264983.1:p.Thr102Ile
Ensemble	ENST00000333868.10:c.305C>T	ENST00000333868.10:p.Thr102Ile
	ENST00000546424.5:c.305C>T	ENST00000546424.5:p.Thr102Ile
	ENST00000375890.8:c.56C>T	ENST00000375890.8:p.Thr19Ile
	ENST00000348549.9:c.305C>T	ENST00000348549.9:p.Thr102Ile

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	Benign
Review star
Show details

Links

CASP9

Type	Database	ID	Link
Gene	MIM	602234	OMIM
	HGNC	1511	HGNC
	Ensembl	ENSG00000132906	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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2020-02-11	criteria provided, single submitter	CASP9-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.003	liver carcinoma	Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->...	BeFree	16109524	Detail
<0.001	liver carcinoma	Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->...	BeFree	16109524	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001229.5(CASP9):c.305C>T (p.Thr102Ile) AND CASP9-related disorder	ClinVar	Detail
Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->G, 6 of polymorphism...	DisGeNET	Detail
Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->G, 6 of polymorphism...	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: chr1:15,844,718-15,844,718
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8654
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): 121410
Allele Counts in All Race (ExAC): 1312
Heterozygous Counts in All Race (ExAC): 1290
Homozygous Counts in All Race (ExAC): 11
Allele Frequency in All Race (ExAC): 0.010806358619553579

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