chr17:7578530:A>G 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	chr17:7,578,530-7,578,530
hg38	chr17:7,675,212-7,675,212 View the variant detail on this assembly version.

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_001126118.1:c.283T>C	NP_001119590.1:p.Phe95Leu
	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_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	ENST00000604348.6:c.379T>C	ENST00000604348.6:p.Phe127Leu
	ENST00000269305.9:c.400T>C	ENST00000269305.9:p.Phe134Leu
	ENST00000576024.2:c.400T>C	ENST00000576024.2:p.Phe134Leu
	ENST00000610292.4:c.283T>C	ENST00000610292.4:p.Phe95Leu
	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
	ENST00000619485.4:c.283T>C	ENST00000619485.4:p.Phe95Leu
	ENST00000504290.5:c.4T>C	ENST00000504290.5:p.Phe2Leu
	ENST00000445888.6:c.400T>C	ENST00000445888.6:p.Phe134Leu
	ENST00000455263.6:c.400T>C	ENST00000455263.6:p.Phe134Leu
	ENST00000504937.5:c.4T>C	ENST00000504937.5:p.Phe2Leu
	ENST00000510385.5:c.4T>C	ENST00000510385.5:p.Phe2Leu
	ENST00000610538.4:c.283T>C	ENST00000610538.4:p.Phe95Leu
	ENST00000610623.4:c.-78T>C
	ENST00000618944.4:c.-78T>C
	ENST00000619186.4:c.-78T>C
	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	Uncertain significance not provided
Variant entry	13
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

MGeND

Clinical significance	Condition	Origin	Submission ID	Submitter	Institute
not provided	bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	fundus of stomach	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided	pyloric antrum	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided	anal canal	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
Uncertain significance	Malignant tumor of rectum (disorder)	unknown	MGS000023 (TMGS000082)	Manabu Muto	Kyoto University
not provided	stomach, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	colon, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	head of pancreas	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	fundus of stomach	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	pyloric antrum	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	descending colon	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	anal canal	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

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: hg19
Position: chr17:7,578,530-7,578,530
Variant Type: snv
Reference Allele: A
Alternative Allele: G

Genome browser

chr17:7578530:A>G Detail (hg19) (TP53)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript