chr9:21974686:G>A Detail (hg38) (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	chr9:21,974,685-21,974,685 View the variant detail on this assembly version.
hg38	chr9:21,974,686-21,974,686

HGVS

CDKN2A

Type	Transcript	Protein
RefSeq	NM_000077.4:c.142C>T	NP_000068.1:p.Pro48Ser
	NM_001195132.1:c.142C>T	NP_001182061.1:p.Pro48Ser
	NM_058195.3:c.194-3478C>T
Ensemble	ENST00000304494.10:c.142C>T	ENST00000304494.10:p.Pro48Ser
	ENST00000494262.5:c.-3-3478C>T
	ENST00000498124.1:c.142C>T	ENST00000498124.1:p.Pro48Ser
	ENST00000498628.6:c.-3-3478C>T
	ENST00000530628.2:c.194-3478C>T
	ENST00000579122.1:c.142C>T	ENST00000579122.1:p.Pro48Ser
	ENST00000579755.2:c.194-3478C>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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	COSM6625722	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.145	Hereditary Melanoma	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
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: rs786204195 dbSNP
Genome: hg38
Position: chr9:21,974,686-21,974,686
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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