chr17:7675994:C>A Detail (hg38) (TP53)

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

Information

Genome

Assembly	Position
hg19	chr17:7,579,312-7,579,312 View the variant detail on this assembly version.
hg38	chr17:7,675,994-7,675,994

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.375G>T	NP_000537.3:p.Thr125=
	NM_001126112.2:c.375G>T	NP_001119584.1:p.Thr125=
	NM_001276760.1:c.375G>T	NP_001263689.1:p.Thr125=
	NM_001276761.1:c.375G>T	NP_001263690.1:p.Thr125=
	NM_001126113.2:c.375G>T	NP_001119585.1:p.Thr125=
	NM_001276695.1:c.375G>T	NP_001263624.1:p.Thr125=
	NM_001126118.1:c.258G>T	NP_001119590.1:p.Thr86=
	NM_001276696.1:c.258G>T	NP_001263625.1:p.Thr86=
Ensemble	ENST00000619485.4:c.258G>T	ENST00000619485.4:p.Thr86=
	ENST00000610538.4:c.258G>T	ENST00000610538.4:p.Thr86=
	ENST00000269305.9:c.375G>T	ENST00000269305.9:p.Thr125=
	ENST00000359597.8:c.375G>T	ENST00000359597.8:p.Thr125=
	ENST00000413465.6:c.375G>T	ENST00000413465.6:p.Thr125=
	ENST00000420246.6:c.375G>T	ENST00000420246.6:p.Thr125=
	ENST00000445888.6:c.375G>T	ENST00000445888.6:p.Thr125=
	ENST00000455263.6:c.375G>T	ENST00000455263.6:p.Thr125=
	ENST00000576024.2:c.375G>T	ENST00000576024.2:p.Thr125=
	ENST00000604348.6:c.375G>T	ENST00000604348.6:p.Thr125=
	ENST00000610292.4:c.258G>T	ENST00000610292.4:p.Thr86=
	ENST00000620739.4:c.258G>T	ENST00000620739.4:p.Thr86=
	ENST00000622645.4:c.258G>T	ENST00000622645.4:p.Thr86=
	ENST00000714356.1:c.258G>T	ENST00000714356.1:p.Thr86=
	ENST00000714357.1:c.375G>T	ENST00000714357.1:p.Thr125=
	ENST00000714359.1:c.375G>T	ENST00000714359.1:p.Thr125=
	ENST00000714408.1:c.375G>T	ENST00000714408.1:p.Thr125=
	ENST00000714409.1:c.375G>T	ENST00000714409.1:p.Thr125=

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	COSM3388231	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-07-03	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail
not provided		no assertion provided	not provided	not applicable	Detail
Pathogenic	2020-12-04	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2024-02-13	criteria provided, single submitter	Li-Fraumeni syndrome 1	unknown	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.375G>T (p.Thr125=) AND Li-Fraumeni syndrome	ClinVar	Detail
NM_000546.6(TP53):c.375G>T (p.Thr125=) AND not provided	ClinVar	Detail
NM_000546.6(TP53):c.375G>T (p.Thr125=) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000546.6(TP53):c.375G>T (p.Thr125=) AND Li-Fraumeni syndrome 1	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: rs55863639 dbSNP
Genome: hg38
Position: chr17:7,675,994-7,675,994
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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