chr17:7674245:T>C 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	chr17:7,577,563-7,577,563 View the variant detail on this assembly version.
hg38	chr17:7,674,245-7,674,245

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_001276696.1:c.601A>G	NP_001263625.1:p.Ser201Gly
	NM_000546.5:c.718A>G	NP_000537.3:p.Ser240Gly
	NM_001126112.2:c.718A>G	NP_001119584.1:p.Ser240Gly
	NM_001276760.1:c.718A>G	NP_001263689.1:p.Ser240Gly
	NM_001276761.1:c.718A>G	NP_001263690.1:p.Ser240Gly
	NM_001126113.2:c.718A>G	NP_001119585.1:p.Ser240Gly
	NM_001276695.1:c.718A>G	NP_001263624.1:p.Ser240Gly
	NM_001126116.1:c.322A>G	NP_001119588.1:p.Ser108Gly
	NM_001276698.1:c.322A>G	NP_001263627.1:p.Ser108Gly
	NM_001126118.1:c.601A>G	NP_001119590.1:p.Ser201Gly
	NM_001126117.1:c.241A>G	NP_001119589.1:p.Ser81Gly
	NM_001276699.1:c.241A>G	NP_001263628.1:p.Ser81Gly
	NM_001126115.1:c.241A>G	NP_001119587.1:p.Ser81Gly
	NM_001276697.1:c.241A>G	NP_001263626.1:p.Ser81Gly
Ensemble	ENST00000619485.4:c.601A>G	ENST00000619485.4:p.Ser201Gly
	ENST00000620739.4:c.601A>G	ENST00000620739.4:p.Ser201Gly
	ENST00000622645.4:c.601A>G	ENST00000622645.4:p.Ser201Gly
	ENST00000714356.1:c.601A>G	ENST00000714356.1:p.Ser201Gly
	ENST00000714357.1:c.718A>G	ENST00000714357.1:p.Ser240Gly
	ENST00000714359.1:c.718A>G	ENST00000714359.1:p.Ser240Gly
	ENST00000269305.9:c.718A>G	ENST00000269305.9:p.Ser240Gly
	ENST00000359597.8:c.718A>G	ENST00000359597.8:p.Ser240Gly
	ENST00000413465.6:c.718A>G	ENST00000413465.6:p.Ser240Gly
	ENST00000420246.6:c.718A>G	ENST00000420246.6:p.Ser240Gly
	ENST00000445888.6:c.718A>G	ENST00000445888.6:p.Ser240Gly
	ENST00000455263.6:c.718A>G	ENST00000455263.6:p.Ser240Gly
	ENST00000504290.5:c.322A>G	ENST00000504290.5:p.Ser108Gly
	ENST00000504937.5:c.322A>G	ENST00000504937.5:p.Ser108Gly
	ENST00000510385.5:c.322A>G	ENST00000510385.5:p.Ser108Gly
	ENST00000576024.2:c.718A>G	ENST00000576024.2:p.Ser240Gly
	ENST00000604348.6:c.697A>G	ENST00000604348.6:p.Ser233Gly
	ENST00000610292.4:c.601A>G	ENST00000610292.4:p.Ser201Gly
	ENST00000610538.4:c.601A>G	ENST00000610538.4:p.Ser201Gly
	ENST00000610623.4:c.241A>G	ENST00000610623.4:p.Ser81Gly
	ENST00000618944.4:c.241A>G	ENST00000618944.4:p.Ser81Gly
	ENST00000619186.4:c.241A>G	ENST00000619186.4:p.Ser81Gly
	ENST00000714408.1:c.718A>G	ENST00000714408.1:p.Ser240Gly
	ENST00000714409.1:c.718A>G	ENST00000714409.1:p.Ser240Gly

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	COSM984911	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2022-02-18	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
Likely pathogenic	2019-05-28	criteria provided, single submitter	Squamous cell carcinoma of the head and neck	unknown	Detail
Likely pathogenic	2022-06-18	criteria provided, single submitter	Li-Fraumeni syndrome 1	germline	Detail
Pathogenic Likely pathogenic	2022-06-18	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.718A>G (p.Ser240Gly) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.718A>G (p.Ser240Gly) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000546.6(TP53):c.718A>G (p.Ser240Gly) AND Li-Fraumeni syndrome 1	ClinVar	Detail
NM_000546.6(TP53):c.718A>G (p.Ser240Gly) 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: rs1567549584 dbSNP
Genome: hg38
Position: chr17:7,674,245-7,674,245
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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