chr17:7579716:GGAA>ACGTTCTT 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	chr17:7,579,716-7,579,719
hg38	chr17:7,676,398-7,676,401 View the variant detail on this assembly version.

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.77_80delinsAAGAACGT	NP_000537.3:p.Leu26GlnfsTer4
	NM_001126112.2:c.77_80delinsAAGAACGT	NP_001119584.1:p.Leu26GlnfsTer4
	NM_001276760.1:c.77_80delinsAAGAACGT	NP_001263689.1:p.Leu26GlnfsTer4
	NM_001276761.1:c.77_80delinsAAGAACGT	NP_001263690.1:p.Leu26GlnfsTer4
	NM_001126118.1:c.-38_-41delinsAAGAACGT
	NM_001276696.1:c.-38_-41delinsAAGAACGT
	NM_001126113.2:c.77_80delinsAAGAACGT	NP_001119585.1:p.Leu26GlnfsTer4
	NM_001276695.1:c.77_80delinsAAGAACGT	NP_001263624.1:p.Leu26GlnfsTer4
Ensemble	ENST00000269305.9:c.77_80delinsAAGAACGT	ENST00000269305.9:p.Leu26GlnfsTer4
	ENST00000610538.4:c.-38_-41delinsAAGAACGT
	ENST00000714357.1:c.77_80delinsAAGAACGT	ENST00000714357.1:p.Leu26GlnfsTer4
	ENST00000610292.4:c.-38_-41delinsAAGAACGT
	ENST00000604348.6:c.77_80delinsAAGAACGT	ENST00000604348.6:p.Leu26GlnfsTer4
	ENST00000359597.8:c.77_80delinsAAGAACGT	ENST00000359597.8:p.Leu26GlnfsTer4
	ENST00000714409.1:c.77_80delinsAAGAACGT	ENST00000714409.1:p.Leu26GlnfsTer4
	ENST00000714359.1:c.77_80delinsAAGAACGT	ENST00000714359.1:p.Leu26GlnfsTer4
	ENST00000413465.6:c.77_80delinsAAGAACGT	ENST00000413465.6:p.Leu26GlnfsTer4
	ENST00000714356.1:c.-38_-41delinsAAGAACGT
	ENST00000420246.6:c.77_80delinsAAGAACGT	ENST00000420246.6:p.Leu26GlnfsTer4
	ENST00000622645.4:c.-38_-41delinsAAGAACGT
	ENST00000576024.2:c.77_80delinsAAGAACGT	ENST00000576024.2:p.Leu26GlnfsTer4
	ENST00000714408.1:c.77_80delinsAAGAACGT	ENST00000714408.1:p.Leu26GlnfsTer4
	ENST00000455263.6:c.77_80delinsAAGAACGT	ENST00000455263.6:p.Leu26GlnfsTer4
	ENST00000620739.4:c.-38_-41delinsAAGAACGT
	ENST00000619485.4:c.-38_-41delinsAAGAACGT
	ENST00000445888.6:c.77_80delinsAAGAACGT	ENST00000445888.6:p.Leu26GlnfsTer4

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

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
Likely pathogenic	2009-02-05	no assertion criteria provided	Li-Fraumeni syndrome	germline	Detail
Pathogenic	2017-08-07	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.441	Li-Fraumeni syndrome 1	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.77_80delinsAAGAACGT (p.Leu26fs) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.77_80delinsAAGAACGT (p.Leu26fs) AND Hereditary cancer-predisposing 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: rs397516438 dbSNP
Genome: hg19
Position: chr17:7,579,716-7,579,719
Variant Type: snv
Reference Allele: GGAA
Alternative Allele: ACGTTCTT

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