chr3:189607267:T>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	chr3:189,607,267-189,607,267
hg38	chr3:189,889,478-189,889,478 View the variant detail on this assembly version.

HGVS

TP63

Type	Transcript	Protein
RefSeq	NM_001114978.1:c.1646T>C	NP_001108450.1:p.Ile549Thr
	NM_003722.4:c.1646T>C	NP_003713.3:p.Ile549Thr
	NM_001114980.1:c.1364T>C	NP_001108452.1:p.Ile455Thr
	NM_001114981.1:c.1364T>C	NP_001108453.1:p.Ile455Thr
	NM_001329148.1:c.1634T>C	NP_001316077.1:p.Ile545Thr
Ensemble	ENST00000264731.8:c.1646T>C	ENST00000264731.8:p.Ile549Thr
	ENST00000320472.9:c.1507+2927T>C
	ENST00000354600.10:c.1364T>C	ENST00000354600.10:p.Ile455Thr
	ENST00000392460.7:c.1646T>C	ENST00000392460.7:p.Ile549Thr
	ENST00000392461.7:c.1225+2927T>C
	ENST00000392463.6:c.1364T>C	ENST00000392463.6:p.Ile455Thr
	ENST00000440651.6:c.1634T>C	ENST00000440651.6:p.Ile545Thr
	ENST00000449992.5:c.1109T>C	ENST00000449992.5:p.Ile370Thr
	ENST00000456148.1:c.1352T>C	ENST00000456148.1:p.Ile451Thr

Summary

MGeND

Clinical significance
Variant entry
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2004-07-01	no assertion criteria provided	ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	germline	Detail
Pathogenic	2004-07-01	no assertion criteria provided	Rapp-Hodgkin ectodermal dysplasia syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.484	Rapp-Hodgkin syndrome	NA	CLINVAR		Detail
0.447	Hay-Wells syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_003722.5(TP63):c.1646T>C (p.Ile549Thr) AND Ankyloblepharon-ectodermal defects-cleft lip/palate sy...	ClinVar	Detail
NM_003722.5(TP63):c.1646T>C (p.Ile549Thr) AND Rapp-Hodgkin ectodermal dysplasia syndrome	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: rs121908845 dbSNP
Genome: hg19
Position: chr3:189,607,267-189,607,267
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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