chr17:7675212:A>G 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	chr17:7,578,530-7,578,530 View the variant detail on this assembly version.
hg38	chr17:7,675,212-7,675,212

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.400T>C	NP_000537.3:p.Phe134Leu
	NM_001126112.2:c.400T>C	NP_001119584.1:p.Phe134Leu
	NM_001276760.1:c.400T>C	NP_001263689.1:p.Phe134Leu
	NM_001276761.1:c.400T>C	NP_001263690.1:p.Phe134Leu
	NM_001126113.2:c.400T>C	NP_001119585.1:p.Phe134Leu
	NM_001276695.1:c.400T>C	NP_001263624.1:p.Phe134Leu
	NM_001126116.1:c.4T>C	NP_001119588.1:p.Phe2Leu
	NM_001276698.1:c.4T>C	NP_001263627.1:p.Phe2Leu
	NM_001126118.1:c.283T>C	NP_001119590.1:p.Phe95Leu
	NM_001126117.1:c.-78T>C
	NM_001276699.1:c.-78T>C
	NM_001126115.1:c.-78T>C
	NM_001276697.1:c.-78T>C
	NM_001276696.1:c.283T>C	NP_001263625.1:p.Phe95Leu
Ensemble	ENST00000269305.9:c.400T>C	ENST00000269305.9:p.Phe134Leu
	ENST00000359597.8:c.400T>C	ENST00000359597.8:p.Phe134Leu
	ENST00000413465.6:c.400T>C	ENST00000413465.6:p.Phe134Leu
	ENST00000420246.6:c.400T>C	ENST00000420246.6:p.Phe134Leu
	ENST00000445888.6:c.400T>C	ENST00000445888.6:p.Phe134Leu
	ENST00000455263.6:c.400T>C	ENST00000455263.6:p.Phe134Leu
	ENST00000504290.5:c.4T>C	ENST00000504290.5:p.Phe2Leu
	ENST00000504937.5:c.4T>C	ENST00000504937.5:p.Phe2Leu
	ENST00000510385.5:c.4T>C	ENST00000510385.5:p.Phe2Leu
	ENST00000576024.2:c.400T>C	ENST00000576024.2:p.Phe134Leu
	ENST00000604348.6:c.379T>C	ENST00000604348.6:p.Phe127Leu
	ENST00000610292.4:c.283T>C	ENST00000610292.4:p.Phe95Leu
	ENST00000610538.4:c.283T>C	ENST00000610538.4:p.Phe95Leu
	ENST00000610623.4:c.-78T>C
	ENST00000618944.4:c.-78T>C
	ENST00000619186.4:c.-78T>C
	ENST00000619485.4:c.283T>C	ENST00000619485.4:p.Phe95Leu
	ENST00000620739.4:c.283T>C	ENST00000620739.4:p.Phe95Leu
	ENST00000622645.4:c.283T>C	ENST00000622645.4:p.Phe95Leu
	ENST00000714356.1:c.283T>C	ENST00000714356.1:p.Phe95Leu
	ENST00000714357.1:c.400T>C	ENST00000714357.1:p.Phe134Leu
	ENST00000714359.1:c.400T>C	ENST00000714359.1:p.Phe134Leu
	ENST00000714408.1:c.400T>C	ENST00000714408.1:p.Phe134Leu
	ENST00000714409.1:c.400T>C	ENST00000714409.1:p.Phe134Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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	COSM3522711	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2018-06-13	criteria provided, single submitter	Li-Fraumeni syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.080	Carcinogenesis	This study has investigated the impact of three specific dominant-negative p53 m...	BeFree	16723121	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.400T>C (p.Phe134Leu) AND Li-Fraumeni syndrome	ClinVar	Detail
This study has investigated the impact of three specific dominant-negative p53 mutants (F134L, M237L...	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: rs267605077 dbSNP
Genome: hg38
Position: chr17:7,675,212-7,675,212
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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