chr9:21971114:CGGGTCGGGTGAGAGTGGC> Detail (hg19) (CDKN2A)

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

Genome

Assembly	Position
hg19	chr9:21,971,114-21,971,132
hg38	chr9:21,971,115-21,971,133

HGVS

CDKN2A

Type	Transcript	Protein
RefSeq	NM_000077.4:c.226_244delGCCACTCTCACCCGACCCG	NP_000068.1:p.Ala76CysfsTer64
	NM_001195132.1:c.226_244delGCCACTCTCACCCGACCCG	NP_001182061.1:p.Ala76CysfsTer64
	NM_058195.3:c.269_287delGCCACTCTCACCCGACCCG	NP_478102.2:p.Arg90LeufsTer76
Ensemble	ENST00000304494.10:c.226_244delGCCACTCTCACCCGACCCG	ENST00000304494.10:p.Ala76CysfsTer64
	ENST00000479692.2:c.73_91delGCCACTCTCACCCGACCCG	ENST00000479692.2:p.Ala25CysfsTer64
	ENST00000494262.5:c.73_91delGCCACTCTCACCCGACCCG	ENST00000494262.5:p.Ala25CysfsTer64
	ENST00000497750.1:c.73_91delGCCACTCTCACCCGACCCG	ENST00000497750.1:p.Ala25CysfsTer64
	ENST00000498124.1:c.226_244delGCCACTCTCACCCGACCCG	ENST00000498124.1:p.Ala76CysfsTer64
	ENST00000498628.6:c.73_91delGCCACTCTCACCCGACCCG	ENST00000498628.6:p.Ala25CysfsTer64
	ENST00000530628.2:c.269_287delGCCACTCTCACCCGACCCG	ENST00000530628.2:p.Arg90LeufsTer58
	ENST00000578845.2:c.73_91delGCCACTCTCACCCGACCCG	ENST00000578845.2:p.Ala25CysfsTer64
	ENST00000579122.1:c.226_244delGCCACTCTCACCCGACCCG	ENST00000579122.1:p.Ala76CysfsTer51
	ENST00000579755.2:c.269_287delGCCACTCTCACCCGACCCG	ENST00000579755.2:p.Arg90LeufsTer76

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic; risk factor
Review star
Show details

Links

CDKN2A

Type	Database	ID	Link
Gene	MIM	600160	OMIM
	HGNC	1787	HGNC
	Ensembl	ENSG00000147889	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
risk factor	2012-06-01	no assertion criteria provided	Melanoma, cutaneous malignant, susceptibility to, 2	unknown	Detail
Pathogenic	2012-06-01	no assertion criteria provided	Melanoma-pancreatic cancer syndrome	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Melanoma-pancreatic cancer syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000077.5(CDKN2A):c.226_244del (p.Ala76fs) AND Melanoma, cutaneous malignant, susceptibility to, 2	ClinVar	Detail
NM_000077.5(CDKN2A):c.226_244del (p.Ala76fs) AND Melanoma-pancreatic cancer syndrome	ClinVar	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: -
dbSNP: rs587776716 dbSNP
Genome: hg19
Position: chr9:21,971,114-21,971,132
Variant Type: snv
Reference Allele: CGGGTCGGGTGAGAGTGGC
Alternative Allele: -

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