chr9:21974678:T>G 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	chr9:21,974,678-21,974,678
hg38	chr9:21,974,679-21,974,679 View the variant detail on this assembly version.

HGVS

CDKN2A

Type	Transcript	Protein
RefSeq	NM_058195.3:c.194-3471A>C
	NM_001195132.1:c.149A>C	NP_001182061.1:p.Gln50Pro
	NM_000077.4:c.149A>C	NP_000068.1:p.Gln50Pro
Ensemble	ENST00000579755.2:c.194-3471A>C
	ENST00000579122.1:c.149A>C	ENST00000579122.1:p.Gln50Pro
	ENST00000498124.1:c.149A>C	ENST00000498124.1:p.Gln50Pro
	ENST00000494262.5:c.-3-3471A>C
	ENST00000498628.6:c.-3-3471A>C
	ENST00000304494.10:c.149A>C	ENST00000304494.10:p.Gln50Pro
	ENST00000530628.2:c.194-3471A>C

Summary

MGeND

Clinical significance	not provided
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2024-01-10	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2023-08-30	criteria provided, single submitter	familial melanoma	germline	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.149A>C (p.Gln50Pro) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000077.5(CDKN2A):c.149A>C (p.Gln50Pro) AND Familial melanoma	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: rs587778189 dbSNP
Genome: hg19
Position: chr9:21,974,678-21,974,678
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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