chr17:7676033:GCCCAGACGGAA> 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	chr17:7,579,351-7,579,362
hg38	chr17:7,676,033-7,676,044

HGVS

TP53

Type	Transcript	Protein
RefSeq	NM_000546.5:c.325_336delTTCCGTCTGGGC	NP_000537.3:p.Arg110_Phe113del
	NM_001126112.2:c.325_336delTTCCGTCTGGGC	NP_001119584.1:p.Arg110_Phe113del
	NM_001276760.1:c.325_336delTTCCGTCTGGGC	NP_001263689.1:p.Arg110_Phe113del
	NM_001276761.1:c.325_336delTTCCGTCTGGGC	NP_001263690.1:p.Arg110_Phe113del
	NM_001126113.2:c.325_336delTTCCGTCTGGGC	NP_001119585.1:p.Arg110_Phe113del
	NM_001276695.1:c.325_336delTTCCGTCTGGGC	NP_001263624.1:p.Arg110_Phe113del
	NM_001126118.1:c.208_219delTTCCGTCTGGGC	NP_001119590.1:p.Arg71_Phe74del
	NM_001276696.1:c.208_219delTTCCGTCTGGGC	NP_001263625.1:p.Arg71_Phe74del
Ensemble	ENST00000269305.9:c.325_336delTTCCGTCTGGGC	ENST00000269305.9:p.Arg110_Phe113del
	ENST00000359597.8:c.325_336delTTCCGTCTGGGC	ENST00000359597.8:p.Arg110_Phe113del
	ENST00000413465.6:c.325_336delTTCCGTCTGGGC	ENST00000413465.6:p.Arg110_Phe113del
	ENST00000420246.6:c.325_336delTTCCGTCTGGGC	ENST00000420246.6:p.Arg110_Phe113del
	ENST00000445888.6:c.325_336delTTCCGTCTGGGC	ENST00000445888.6:p.Arg110_Phe113del
	ENST00000455263.6:c.325_336delTTCCGTCTGGGC	ENST00000455263.6:p.Arg110_Phe113del
	ENST00000576024.2:c.325_336delTTCCGTCTGGGC	ENST00000576024.2:p.Arg110_Phe113del
	ENST00000604348.6:c.325_336delTTCCGTCTGGGC	ENST00000604348.6:p.Arg110_Phe113del
	ENST00000610292.4:c.208_219delTTCCGTCTGGGC	ENST00000610292.4:p.Arg71_Phe74del
	ENST00000610538.4:c.208_219delTTCCGTCTGGGC	ENST00000610538.4:p.Arg71_Phe74del
	ENST00000619485.4:c.208_219delTTCCGTCTGGGC	ENST00000619485.4:p.Arg71_Phe74del
	ENST00000620739.4:c.208_219delTTCCGTCTGGGC	ENST00000620739.4:p.Arg71_Phe74del
	ENST00000622645.4:c.208_219delTTCCGTCTGGGC	ENST00000622645.4:p.Arg71_Phe74del
	ENST00000714356.1:c.208_219delTTCCGTCTGGGC	ENST00000714356.1:p.Arg71_Phe74del
	ENST00000714357.1:c.325_336delTTCCGTCTGGGC	ENST00000714357.1:p.Arg110_Phe113del
	ENST00000714359.1:c.325_336delTTCCGTCTGGGC	ENST00000714359.1:p.Arg110_Phe113del
	ENST00000714408.1:c.325_336delTTCCGTCTGGGC	ENST00000714408.1:p.Arg110_Phe113del
	ENST00000714409.1:c.325_336delTTCCGTCTGGGC	ENST00000714409.1:p.Arg110_Phe113del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
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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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2023-05-15	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000546.6(TP53):c.328_339del (p.Arg110_Phe113del) AND Hereditary cancer-predisposing syndrome	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: rs587782490 dbSNP
Genome: hg38
Position: chr17:7,676,033-7,676,044
Variant Type: snv
Reference Allele: GCCCAGACGGAA
Alternative Allele: -

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