chr3:189864379:C>T Detail (hg38) (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	chr3:189,582,168-189,582,168 View the variant detail on this assembly version.
hg38	chr3:189,864,379-189,864,379

HGVS

TP63

Type	Transcript	Protein
RefSeq	NM_001114978.1:c.727C>T	NP_001108450.1:p.Arg243Trp
	NM_003722.4:c.727C>T	NP_003713.3:p.Arg243Trp
	NM_001114980.1:c.445C>T	NP_001108452.1:p.Arg149Trp
	NM_001114981.1:c.445C>T	NP_001108453.1:p.Arg149Trp
	NM_001114979.1:c.727C>T	NP_001108451.1:p.Arg243Trp
	NM_001114982.1:c.445C>T	NP_001108454.1:p.Arg149Trp
	NM_001329148.1:c.727C>T	NP_001316077.1:p.Arg243Trp
Ensemble	ENST00000264731.8:c.727C>T	ENST00000264731.8:p.Arg243Trp
	ENST00000320472.9:c.727C>T	ENST00000320472.9:p.Arg243Trp
	ENST00000354600.10:c.445C>T	ENST00000354600.10:p.Arg149Trp
	ENST00000392460.7:c.727C>T	ENST00000392460.7:p.Arg243Trp
	ENST00000392461.7:c.445C>T	ENST00000392461.7:p.Arg149Trp
	ENST00000392463.6:c.445C>T	ENST00000392463.6:p.Arg149Trp
	ENST00000418709.6:c.727C>T	ENST00000418709.6:p.Arg243Trp
	ENST00000437221.5:c.445C>T	ENST00000437221.5:p.Arg149Trp
	ENST00000440651.6:c.727C>T	ENST00000440651.6:p.Arg243Trp
	ENST00000449992.5:c.190C>T	ENST00000449992.5:p.Arg64Trp
	ENST00000456148.1:c.445C>T	ENST00000456148.1:p.Arg149Trp

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	COSM3333075	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000071 (TMGS000143)	Kenjiro Kosaki	Keio University Kobe Universtiy

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2008-10-01	no assertion criteria provided	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	unknown	Detail
Pathogenic	2023-04-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-02-25	criteria provided, single submitter	TP63-Related Spectrum Disorders	germline	Detail
Pathogenic	2022-09-01	criteria provided, single submitter	Rapp-Hodgkin ectodermal dysplasia syndrome	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
0.483	ADULT syndrome	ADULT syndrome due to an R243W mutation in TP63.	BeFree	22607287	Detail
0.247	Rudiger syndrome 1	Here, we report a three-generation family with ADULT syndrome due to an R243W mu...	BeFree	22607287	Detail

Annotation

Annotations

Descrption	Source	Links
NM_003722.5(TP63):c.727C>T (p.Arg243Trp) AND Ectrodactyly, ectodermal dysplasia, and cleft lip-palat...	ClinVar	Detail
NM_003722.5(TP63):c.727C>T (p.Arg243Trp) AND not provided	ClinVar	Detail
NM_003722.5(TP63):c.727C>T (p.Arg243Trp) AND TP63-Related Spectrum Disorders	ClinVar	Detail
NM_003722.5(TP63):c.727C>T (p.Arg243Trp) AND Rapp-Hodgkin ectodermal dysplasia syndrome	ClinVar	Detail
NA	DisGeNET	Detail
ADULT syndrome due to an R243W mutation in TP63.	DisGeNET	Detail
Here, we report a three-generation family with ADULT syndrome due to an R243W mutation in TP63, a mu...	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: rs121908835 dbSNP
Genome: hg38
Position: chr3:189,864,379-189,864,379
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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