chr17:7673773:G>T 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	chr17:7,577,091-7,577,091 View the variant detail on this assembly version.
hg38	chr17:7,673,773-7,673,773

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.847C>A	NP_000537.3:p.Arg283Ser
	NM_001126112.2:c.847C>A	NP_001119584.1:p.Arg283Ser
	NM_001276760.1:c.847C>A	NP_001263689.1:p.Arg283Ser
	NM_001276761.1:c.847C>A	NP_001263690.1:p.Arg283Ser
	NM_001126115.1:c.370C>A	NP_001119587.1:p.Arg124Ser
	NM_001276697.1:c.370C>A	NP_001263626.1:p.Arg124Ser
	NM_001126113.2:c.847C>A	NP_001119585.1:p.Arg283Ser
	NM_001276695.1:c.847C>A	NP_001263624.1:p.Arg283Ser
	NM_001126116.1:c.451C>A	NP_001119588.1:p.Arg151Ser
	NM_001276698.1:c.451C>A	NP_001263627.1:p.Arg151Ser
	NM_001126118.1:c.730C>A	NP_001119590.1:p.Arg244Ser
	NM_001126117.1:c.370C>A	NP_001119589.1:p.Arg124Ser
	NM_001276699.1:c.370C>A	NP_001263628.1:p.Arg124Ser
	NM_001276696.1:c.730C>A	NP_001263625.1:p.Arg244Ser
Ensemble	ENST00000269305.9:c.847C>A	ENST00000269305.9:p.Arg283Ser
	ENST00000618944.4:c.370C>A	ENST00000618944.4:p.Arg124Ser
	ENST00000619186.4:c.370C>A	ENST00000619186.4:p.Arg124Ser
	ENST00000619485.4:c.730C>A	ENST00000619485.4:p.Arg244Ser
	ENST00000359597.8:c.847C>A	ENST00000359597.8:p.Arg283Ser
	ENST00000413465.6:c.782+408C>A
	ENST00000420246.6:c.847C>A	ENST00000420246.6:p.Arg283Ser
	ENST00000445888.6:c.847C>A	ENST00000445888.6:p.Arg283Ser
	ENST00000455263.6:c.847C>A	ENST00000455263.6:p.Arg283Ser
	ENST00000504290.5:c.451C>A	ENST00000504290.5:p.Arg151Ser
	ENST00000504937.5:c.451C>A	ENST00000504937.5:p.Arg151Ser
	ENST00000510385.5:c.451C>A	ENST00000510385.5:p.Arg151Ser
	ENST00000576024.2:c.847C>A	ENST00000576024.2:p.Arg283Ser
	ENST00000604348.6:c.826C>A	ENST00000604348.6:p.Arg276Ser
	ENST00000610292.4:c.730C>A	ENST00000610292.4:p.Arg244Ser
	ENST00000610538.4:c.730C>A	ENST00000610538.4:p.Arg244Ser
	ENST00000610623.4:c.370C>A	ENST00000610623.4:p.Arg124Ser
	ENST00000620739.4:c.730C>A	ENST00000620739.4:p.Arg244Ser
	ENST00000622645.4:c.730C>A	ENST00000622645.4:p.Arg244Ser
	ENST00000714356.1:c.730C>A	ENST00000714356.1:p.Arg244Ser
	ENST00000714357.1:c.847C>A	ENST00000714357.1:p.Arg283Ser
	ENST00000714359.1:c.847C>A	ENST00000714359.1:p.Arg283Ser
	ENST00000714408.1:c.847C>A	ENST00000714408.1:p.Arg283Ser
	ENST00000714409.1:c.847C>A	ENST00000714409.1:p.Arg283Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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	COSM44831	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Links
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR	Detail
0.369	Li-Fraumeni syndrome	NA	CLINVAR	Detail
0.364	Stomach Neoplasms	NA	CLINVAR	Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	Detail
NA	DisGeNET	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: -
Genome: hg38
Position: chr17:7,673,773-7,673,773
Variant Type: snv
Reference Allele: G
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8622
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120734
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.282670995742708E-6

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