chr17:7572984:C> Detail (hg19) (TP53)

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

Information

Genome

Assembly	Position
hg19	chr17:7,572,984-7,572,984
hg38	chr17:7,669,666-7,669,666

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001126115.1:c.648delG	NP_001119587.1:p.Gln216HisfsTer47
	NM_001276697.1:c.648delG	NP_001263626.1:p.Gln216HisfsTer47
	NM_001126117.1:c.*144delG
	NM_001276699.1:c.*144delG
	NM_001126113.2:c.*144delG
	NM_001276695.1:c.*144delG
	NM_001276696.1:c.*232delG
	NM_000546.5:c.1125delG	NP_000537.3:p.Gln375HisfsTer47
	NM_001126112.2:c.1125delG	NP_001119584.1:p.Gln375HisfsTer47
	NM_001276760.1:c.1125delG	NP_001263689.1:p.Gln375HisfsTer47
	NM_001276761.1:c.1125delG	NP_001263690.1:p.Gln375HisfsTer47
	NM_001126116.1:c.*232delG
	NM_001276698.1:c.*232delG
	NM_001126118.1:c.1008delG	NP_001119590.1:p.Gln336HisfsTer47
Ensemble	ENST00000618944.4:c.*232delG
	ENST00000445888.6:c.1125delG	ENST00000445888.6:p.Gln375HisfsTer47
	ENST00000504937.5:c.729delG	ENST00000504937.5:p.Gln243HisfsTer47
	ENST00000619186.4:c.648delG	ENST00000619186.4:p.Gln216HisfsTer47
	ENST00000714408.1:c.1219delG	ENST00000714408.1:p.Val407SerfsTer19
	ENST00000576024.2:c.1018delG	ENST00000576024.2:p.Val340SerfsTer19
	ENST00000610623.4:c.*144delG
	ENST00000455263.6:c.*144delG
	ENST00000619485.4:c.1008delG	ENST00000619485.4:p.Gln336HisfsTer47
	ENST00000620739.4:c.1008delG	ENST00000620739.4:p.Gln336HisfsTer47
	ENST00000604348.6:c.1104delG	ENST00000604348.6:p.Gln368HisfsTer47
	ENST00000359597.8:c.994-3422delG
	ENST00000714409.1:c.*939delG
	ENST00000413465.6:c.782+4515delG
	ENST00000714356.1:c.983+943delG
	ENST00000714359.1:c.1125delG	ENST00000714359.1:p.Gln375HisfsTer47
	ENST00000420246.6:c.*232delG
	ENST00000622645.4:c.*232delG
	ENST00000269305.9:c.1125delG	ENST00000269305.9:p.Gln375HisfsTer47
	ENST00000504290.5:c.*144delG
	ENST00000714357.1:c.1125delG	ENST00000714357.1:p.Gln375HisfsTer47
	ENST00000510385.5:c.*232delG
	ENST00000610538.4:c.*144delG
	ENST00000610292.4:c.1008delG	ENST00000610292.4:p.Gln336HisfsTer47

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

TP53

Type	Database	ID	Link
Gene	MIM	191170	OMIM
	HGNC	11998	HGNC
	Ensembl	ENSG00000141510	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	2015-03-23	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.1125del (p.Gln375fs) AND not provided	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: rs730882017 dbSNP
Genome: hg19
Position: chr17:7,572,984-7,572,984
Variant Type: snv
Reference Allele: C
Alternative Allele: -

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