chr17:7673809:C>A Detail (hg38) (TP53)

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

Genome

Assembly	Position
hg19	chr17:7,577,127-7,577,127 View the variant detail on this assembly version.
hg38	chr17:7,673,809-7,673,809

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.811G>T	NP_000537.3:p.Glu271Ter
	NM_001126112.2:c.811G>T	NP_001119584.1:p.Glu271Ter
	NM_001276760.1:c.811G>T	NP_001263689.1:p.Glu271Ter
	NM_001276761.1:c.811G>T	NP_001263690.1:p.Glu271Ter
	NM_001126113.2:c.811G>T	NP_001119585.1:p.Glu271Ter
	NM_001276695.1:c.811G>T	NP_001263624.1:p.Glu271Ter
	NM_001126116.1:c.415G>T	NP_001119588.1:p.Glu139Ter
	NM_001276698.1:c.415G>T	NP_001263627.1:p.Glu139Ter
	NM_001126118.1:c.694G>T	NP_001119590.1:p.Glu232Ter
	NM_001126117.1:c.334G>T	NP_001119589.1:p.Glu112Ter
	NM_001276699.1:c.334G>T	NP_001263628.1:p.Glu112Ter
	NM_001126115.1:c.334G>T	NP_001119587.1:p.Glu112Ter
	NM_001276697.1:c.334G>T	NP_001263626.1:p.Glu112Ter
	NM_001276696.1:c.694G>T	NP_001263625.1:p.Glu232Ter
Ensemble	ENST00000413465.6:c.782+372G>T
	ENST00000269305.9:c.811G>T	ENST00000269305.9:p.Glu271Ter
	ENST00000359597.8:c.811G>T	ENST00000359597.8:p.Glu271Ter
	ENST00000420246.6:c.811G>T	ENST00000420246.6:p.Glu271Ter
	ENST00000445888.6:c.811G>T	ENST00000445888.6:p.Glu271Ter
	ENST00000455263.6:c.811G>T	ENST00000455263.6:p.Glu271Ter
	ENST00000504290.5:c.415G>T	ENST00000504290.5:p.Glu139Ter
	ENST00000504937.5:c.415G>T	ENST00000504937.5:p.Glu139Ter
	ENST00000510385.5:c.415G>T	ENST00000510385.5:p.Glu139Ter
	ENST00000576024.2:c.811G>T	ENST00000576024.2:p.Glu271Ter
	ENST00000604348.6:c.790G>T	ENST00000604348.6:p.Glu264Ter
	ENST00000610292.4:c.694G>T	ENST00000610292.4:p.Glu232Ter
	ENST00000610538.4:c.694G>T	ENST00000610538.4:p.Glu232Ter
	ENST00000610623.4:c.334G>T	ENST00000610623.4:p.Glu112Ter
	ENST00000618944.4:c.334G>T	ENST00000618944.4:p.Glu112Ter
	ENST00000619186.4:c.334G>T	ENST00000619186.4:p.Glu112Ter
	ENST00000619485.4:c.694G>T	ENST00000619485.4:p.Glu232Ter
	ENST00000620739.4:c.694G>T	ENST00000620739.4:p.Glu232Ter
	ENST00000622645.4:c.694G>T	ENST00000622645.4:p.Glu232Ter
	ENST00000714356.1:c.694G>T	ENST00000714356.1:p.Glu232Ter
	ENST00000714357.1:c.811G>T	ENST00000714357.1:p.Glu271Ter
	ENST00000714359.1:c.811G>T	ENST00000714359.1:p.Glu271Ter
	ENST00000714408.1:c.811G>T	ENST00000714408.1:p.Glu271Ter
	ENST00000714409.1:c.811G>T	ENST00000714409.1:p.Glu271Ter

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	COSM1646806	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-03-19	no assertion criteria provided	Neoplasm of ovary	somatic	Detail
Pathogenic	2022-08-01	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.811G>T (p.Glu271Ter) AND Neoplasm of ovary	ClinVar	Detail
NM_000546.6(TP53):c.811G>T (p.Glu271Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	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: rs1060501191 dbSNP
Genome: hg38
Position: chr17:7,673,809-7,673,809
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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