chr9:21971108:TCGTGCACGGGTCG> 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	chr9:21,971,107-21,971,120
hg38	chr9:21,971,108-21,971,121

HGVS

CDKN2A

Type	Transcript	Protein
RefSeq	NM_000077.4:c.238_251delCGACCCGTGCACGA	NP_000068.1:p.Pro81CysfsTer34
	NM_001195132.1:c.238_251delCGACCCGTGCACGA	NP_001182061.1:p.Pro81CysfsTer34
	NM_058195.3:c.281_294delCGACCCGTGCACGA	NP_478102.2:p.Thr95LeufsTer61
Ensemble	ENST00000304494.10:c.238_251delCGACCCGTGCACGA	ENST00000304494.10:p.Pro81CysfsTer34
	ENST00000479692.2:c.85_98delCGACCCGTGCACGA	ENST00000479692.2:p.Pro30CysfsTer34
	ENST00000494262.5:c.85_98delCGACCCGTGCACGA	ENST00000494262.5:p.Pro30CysfsTer34
	ENST00000497750.1:c.85_98delCGACCCGTGCACGA	ENST00000497750.1:p.Pro30CysfsTer34
	ENST00000498124.1:c.238_251delCGACCCGTGCACGA	ENST00000498124.1:p.Pro81CysfsTer34
	ENST00000498628.6:c.85_98delCGACCCGTGCACGA	ENST00000498628.6:p.Pro30CysfsTer34
	ENST00000530628.2:c.281_294delCGACCCGTGCACGA	ENST00000530628.2:p.Thr95LeufsTer48
	ENST00000578845.2:c.85_98delCGACCCGTGCACGA	ENST00000578845.2:p.Pro30CysfsTer34
	ENST00000579122.1:c.238_251delCGACCCGTGCACGA	ENST00000579122.1:p.Pro81CysfsTer34
	ENST00000579755.2:c.281_294delCGACCCGTGCACGA	ENST00000579755.2:p.Thr95LeufsTer61

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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
Pathogenic	2023-09-28	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-11-16	criteria provided, multiple submitters, no conflicts	familial melanoma	germline	Detail
Pathogenic	2023-04-20	criteria provided, multiple submitters, no conflicts	Melanoma-pancreatic cancer syndrome	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs) AND Familial melanoma	ClinVar	Detail
NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs) 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: rs730881675 dbSNP
Genome: hg38
Position: chr9:21,971,108-21,971,121
Variant Type: snv
Reference Allele: TCGTGCACGGGTCG
Alternative Allele: -

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