chr3:189612211:C> Detail (hg19) (TP63)

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

Genome

Assembly	Position
hg19	chr3:189,612,211-189,612,211
hg38	chr3:189,894,422-189,894,422

HGVS

TP63

Type	Transcript	Protein
RefSeq	NM_001114978.1:c.1963delC	NP_001108450.1:p.Arg655GlufsTer49
	NM_003722.4:c.1963delC	NP_003713.3:p.Arg655GlufsTer49
	NM_001114980.1:c.1681delC	NP_001108452.1:p.Arg561GlufsTer49
	NM_001114981.1:c.1681delC	NP_001108453.1:p.Arg561GlufsTer49
	NM_001329148.1:c.1951delC	NP_001316077.1:p.Arg651GlufsTer?
Ensemble	ENST00000264731.8:c.1963delC	ENST00000264731.8:p.Arg655GlufsTer49
	ENST00000320472.9:c.*191delC
	ENST00000354600.10:c.1681delC	ENST00000354600.10:p.Arg561GlufsTer49
	ENST00000440651.6:c.1951delC	ENST00000440651.6:p.Arg651GlufsTer?
	ENST00000449992.5:c.1426delC	ENST00000449992.5:p.Arg476GlufsTer?
	ENST00000456148.1:c.1669delC	ENST00000456148.1:p.Arg557GlufsTer?

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

TP63

Type	Database	ID	Link
Gene	MIM	603273	OMIM
	HGNC	15979	HGNC
	Ensembl	ENSG00000073282	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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.483	ADULT syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
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: rs797044843 dbSNP
Genome: hg19
Position: chr3:189,612,211-189,612,211
Variant Type: snv
Reference Allele: C
Alternative Allele: -

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