chr1:15518212:G>A Detail (hg38) (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	chr1:15,844,707-15,844,707 View the variant detail on this assembly version.
hg38	chr1:15,518,212-15,518,212

HGVS

CASP9

Type	Transcript	Protein
RefSeq	NM_001229.4:c.316C>T	NP_001220.2:p.Leu106Phe
	NM_001278054.1:c.316C>T	NP_001264983.1:p.Leu106Phe
	NM_032996.3:c.67C>T	NP_127463.2:p.Leu23Phe
	NR_102732.1:c.316C>T
	NR_102733.1:c.316C>T
Ensemble	ENST00000333868.10:c.316C>T	ENST00000333868.10:p.Leu106Phe
	ENST00000348549.9:c.316C>T	ENST00000348549.9:p.Leu106Phe
	ENST00000375890.8:c.67C>T	ENST00000375890.8:p.Leu23Phe
	ENST00000546424.5:c.316C>T	ENST00000546424.5:p.Leu106Phe

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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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

[No Data.]

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
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: -
dbSNP: rs2308938 dbSNP
Genome: hg38
Position: chr1:15,518,212-15,518,212
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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