chr3:189582169: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	chr3:189,582,169-189,582,169
hg38	chr3:189,864,380-189,864,380 View the variant detail on this assembly version.

HGVS

TP63

Type	Transcript	Protein
RefSeq	NM_001114978.1:c.728G>A	NP_001108450.1:p.Arg243Gln
	NM_003722.4:c.728G>A	NP_003713.3:p.Arg243Gln
	NM_001114980.1:c.446G>A	NP_001108452.1:p.Arg149Gln
	NM_001114981.1:c.446G>A	NP_001108453.1:p.Arg149Gln
	NM_001114979.1:c.728G>A	NP_001108451.1:p.Arg243Gln
	NM_001114982.1:c.446G>A	NP_001108454.1:p.Arg149Gln
	NM_001329148.1:c.728G>A	NP_001316077.1:p.Arg243Gln
Ensemble	ENST00000392461.7:c.446G>A	ENST00000392461.7:p.Arg149Gln
	ENST00000392463.6:c.446G>A	ENST00000392463.6:p.Arg149Gln
	ENST00000264731.8:c.728G>A	ENST00000264731.8:p.Arg243Gln
	ENST00000320472.9:c.728G>A	ENST00000320472.9:p.Arg243Gln
	ENST00000354600.10:c.446G>A	ENST00000354600.10:p.Arg149Gln
	ENST00000418709.6:c.728G>A	ENST00000418709.6:p.Arg243Gln
	ENST00000437221.5:c.446G>A	ENST00000437221.5:p.Arg149Gln
	ENST00000440651.6:c.728G>A	ENST00000440651.6:p.Arg243Gln
	ENST00000449992.5:c.191G>A	ENST00000449992.5:p.Arg64Gln
	ENST00000456148.1:c.446G>A	ENST00000456148.1:p.Arg149Gln
	ENST00000392460.7:c.728G>A	ENST00000392460.7:p.Arg243Gln

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	COSM6978125	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		intermediate phenotype between ADULT and ECC syndromes	germline	MGS000001 (TMGS000179)	Kenjiro Kosaki	Keio University
Pathogenic		intermediate phenotype between ADULT and ECC syndromes	germline	MGS000001 (TMGS000179)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1999-10-15	no assertion criteria provided	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	germline	Detail
Pathogenic	2023-06-10	criteria provided, single submitter	TP63-Related Spectrum Disorders	germline	Detail
Pathogenic	2021-12-27	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2022-05-22	criteria provided, single submitter	split hand-foot malformation 4	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
<0.001	lateral meningocele syndrome	We report on two unrelated families with EEC syndrome (ectrodactyly, ectodermal ...	BeFree	17431922	Detail
0.361	Limb-mammary syndrome	We report on two unrelated families with EEC syndrome (ectrodactyly, ectodermal ...	BeFree	17431922	Detail
0.247	Rudiger syndrome 1	Of the six cases/families now reported with EEC syndrome and Arg227Gln TP63 muta...	BeFree	17431922	Detail

Annotation

Annotations

Descrption	Source	Links
NM_003722.5(TP63):c.728G>A (p.Arg243Gln) AND Ectrodactyly, ectodermal dysplasia, and cleft lip-palat...	ClinVar	Detail
NM_003722.5(TP63):c.728G>A (p.Arg243Gln) AND TP63-Related Spectrum Disorders	ClinVar	Detail
NM_003722.5(TP63):c.728G>A (p.Arg243Gln) AND not provided	ClinVar	Detail
NM_003722.5(TP63):c.728G>A (p.Arg243Gln) AND Split hand-foot malformation 4	ClinVar	Detail
NA	DisGeNET	Detail
We report on two unrelated families with EEC syndrome (ectrodactyly, ectodermal dysplasia, cleft lip...	DisGeNET	Detail
We report on two unrelated families with EEC syndrome (ectrodactyly, ectodermal dysplasia, cleft lip...	DisGeNET	Detail
Of the six cases/families now reported with EEC syndrome and Arg227Gln TP63 mutation, four have mani...	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: rs121908836 dbSNP
Genome: hg19
Position: chr3:189,582,169-189,582,169
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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