chr3:189890795:A>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	chr3:189,608,584-189,608,584 View the variant detail on this assembly version.
hg38	chr3:189,890,795-189,890,795

HGVS

TP63

Type	Transcript	Protein
RefSeq	NM_001114978.1:c.1659A>T	NP_001108450.1:p.Leu553Phe
	NM_003722.4:c.1659A>T	NP_003713.3:p.Leu553Phe
	NM_001114980.1:c.1377A>T	NP_001108452.1:p.Leu459Phe
	NM_001114981.1:c.1377A>T	NP_001108453.1:p.Leu459Phe
	NM_001329148.1:c.1647A>T	NP_001316077.1:p.Leu549Phe
Ensemble	ENST00000264731.8:c.1659A>T	ENST00000264731.8:p.Leu553Phe
	ENST00000320472.9:c.1508-3411A>T
	ENST00000354600.10:c.1377A>T	ENST00000354600.10:p.Leu459Phe
	ENST00000392460.7:c.1652+1311A>T
	ENST00000392461.7:c.1226-3411A>T
	ENST00000392463.6:c.1370+1311A>T
	ENST00000440651.6:c.1647A>T	ENST00000440651.6:p.Leu549Phe
	ENST00000449992.5:c.1122A>T	ENST00000449992.5:p.Leu374Phe
	ENST00000456148.1:c.1365A>T	ENST00000456148.1:p.Leu455Phe

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	2009-09-01	no assertion criteria provided	ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
NM_003722.5(TP63):c.1659A>T (p.Leu553Phe) AND Ankyloblepharon-ectodermal defects-cleft lip/palate sy...	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: rs121908842 dbSNP
Genome: hg38
Position: chr3:189,890,795-189,890,795
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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