chr3:189586404: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	chr3:189,586,404-189,586,404
hg38	chr3:189,868,615-189,868,615 View the variant detail on this assembly version.

HGVS

TP63

Type	Transcript	Protein
RefSeq	NM_001114978.1:c.1028G>A	NP_001108450.1:p.Arg343Gln
	NM_003722.4:c.1028G>A	NP_003713.3:p.Arg343Gln
	NM_001114980.1:c.746G>A	NP_001108452.1:p.Arg249Gln
	NM_001114981.1:c.746G>A	NP_001108453.1:p.Arg249Gln
	NM_001114979.1:c.1028G>A	NP_001108451.1:p.Arg343Gln
	NM_001114982.1:c.746G>A	NP_001108454.1:p.Arg249Gln
	NM_001329148.1:c.1028G>A	NP_001316077.1:p.Arg343Gln
Ensemble	ENST00000264731.8:c.1028G>A	ENST00000264731.8:p.Arg343Gln
	ENST00000320472.9:c.1028G>A	ENST00000320472.9:p.Arg343Gln
	ENST00000354600.10:c.746G>A	ENST00000354600.10:p.Arg249Gln
	ENST00000392460.7:c.1028G>A	ENST00000392460.7:p.Arg343Gln
	ENST00000392461.7:c.746G>A	ENST00000392461.7:p.Arg249Gln
	ENST00000392463.6:c.746G>A	ENST00000392463.6:p.Arg249Gln
	ENST00000418709.6:c.1028G>A	ENST00000418709.6:p.Arg343Gln
	ENST00000437221.5:c.746G>A	ENST00000437221.5:p.Arg249Gln
	ENST00000440651.6:c.1028G>A	ENST00000440651.6:p.Arg343Gln
	ENST00000449992.5:c.491G>A	ENST00000449992.5:p.Arg164Gln
	ENST00000456148.1:c.746G>A	ENST00000456148.1:p.Arg249Gln

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
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	COSM4321592	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000083 (TMGS000166)	Kenjiro Kosaki Kenjiro Kosaki	Keio University Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2022-07-18	criteria provided, single submitter	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	germline	Detail
Pathogenic	2021-12-08	criteria provided, single submitter	not provided	germline	Detail
Pathogenic Likely pathogenic	2023-11-17	criteria provided, multiple submitters, no conflicts	TP63-Related Spectrum Disorders	germline	Detail
Pathogenic	2018-05-02	criteria provided, single submitter	Inborn genetic diseases	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

Annotation

Annotations

Descrption	Source	Links
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln) AND Ectrodactyly, ectodermal dysplasia, and cleft lip-pala...	ClinVar	Detail
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln) AND not provided	ClinVar	Detail
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln) AND TP63-Related Spectrum Disorders	ClinVar	Detail
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln) AND Inborn genetic diseases	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: rs121908841 dbSNP
Genome: hg19
Position: chr3:189,586,404-189,586,404
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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