chr3:189585692:G>A 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	chr3:189,585,692-189,585,692
hg38	chr3:189,867,903-189,867,903 View the variant detail on this assembly version.

HGVS

TP63

Type	Transcript	Protein
RefSeq	NM_001114980.1:c.671G>A	NP_001108452.1:p.Arg224His
	NM_001114981.1:c.671G>A	NP_001108453.1:p.Arg224His
	NM_001114979.1:c.953G>A	NP_001108451.1:p.Arg318His
	NM_001114982.1:c.671G>A	NP_001108454.1:p.Arg224His
	NM_001329148.1:c.953G>A	NP_001316077.1:p.Arg318His
	NM_001114978.1:c.953G>A	NP_001108450.1:p.Arg318His
	NM_003722.4:c.953G>A	NP_003713.3:p.Arg318His
Ensemble	ENST00000354600.10:c.671G>A	ENST00000354600.10:p.Arg224His
	ENST00000392460.7:c.953G>A	ENST00000392460.7:p.Arg318His
	ENST00000392461.7:c.671G>A	ENST00000392461.7:p.Arg224His
	ENST00000392463.6:c.671G>A	ENST00000392463.6:p.Arg224His
	ENST00000418709.6:c.953G>A	ENST00000418709.6:p.Arg318His
	ENST00000437221.5:c.671G>A	ENST00000437221.5:p.Arg224His
	ENST00000440651.6:c.953G>A	ENST00000440651.6:p.Arg318His
	ENST00000449992.5:c.416G>A	ENST00000449992.5:p.Arg139His
	ENST00000456148.1:c.671G>A	ENST00000456148.1:p.Arg224His
	ENST00000264731.8:c.953G>A	ENST00000264731.8:p.Arg318His
	ENST00000320472.9:c.953G>A	ENST00000320472.9:p.Arg318His

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2022-03-22	criteria provided, multiple submitters, no conflicts	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	germline	Detail
Pathogenic	2003-09-01	no assertion criteria provided	Rapp-Hodgkin ectodermal dysplasia syndrome	germline	Detail
Pathogenic	2021-12-16	criteria provided, multiple submitters, no conflicts	not provided	de novo germline	Detail
Pathogenic	2022-09-08	criteria provided, single submitter	TP63-Related Spectrum Disorders	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	NA	CLINVAR		Detail
0.484	Rapp-Hodgkin syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_003722.5(TP63):c.953G>A (p.Arg318His) AND Ectrodactyly, ectodermal dysplasia, and cleft lip-palat...	ClinVar	Detail
NM_003722.5(TP63):c.953G>A (p.Arg318His) AND Rapp-Hodgkin ectodermal dysplasia syndrome	ClinVar	Detail
NM_003722.5(TP63):c.953G>A (p.Arg318His) AND not provided	ClinVar	Detail
NM_003722.5(TP63):c.953G>A (p.Arg318His) AND TP63-Related Spectrum Disorders	ClinVar	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: -
dbSNP: rs121908840 dbSNP
Genome: hg19
Position: chr3:189,585,692-189,585,692
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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