chr3:189608606:T>G 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	chr3:189,608,606-189,608,606
hg38	chr3:189,890,817-189,890,817 View the variant detail on this assembly version.

HGVS

TP63

Type	Transcript	Protein
RefSeq	NM_001114978.1:c.1681T>G	NP_001108450.1:p.Cys561Gly
	NM_003722.4:c.1681T>G	NP_003713.3:p.Cys561Gly
	NM_001114980.1:c.1399T>G	NP_001108452.1:p.Cys467Gly
	NM_001114981.1:c.1399T>G	NP_001108453.1:p.Cys467Gly
	NM_001329148.1:c.1669T>G	NP_001316077.1:p.Cys557Gly
Ensemble	ENST00000264731.8:c.1681T>G	ENST00000264731.8:p.Cys561Gly
	ENST00000320472.9:c.1508-3389T>G
	ENST00000354600.10:c.1399T>G	ENST00000354600.10:p.Cys467Gly
	ENST00000392460.7:c.1652+1333T>G
	ENST00000392461.7:c.1226-3389T>G
	ENST00000392463.6:c.1370+1333T>G
	ENST00000440651.6:c.1669T>G	ENST00000440651.6:p.Cys557Gly
	ENST00000449992.5:c.1144T>G	ENST00000449992.5:p.Cys382Gly
	ENST00000456148.1:c.1387T>G	ENST00000456148.1:p.Cys463Gly

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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	2001-02-01	no assertion criteria provided	ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	germline	Detail
Likely pathogenic	2019-01-25	criteria provided, single submitter	TP63-Related Spectrum Disorders	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.1681T>G (p.Cys561Gly) AND Ankyloblepharon-ectodermal defects-cleft lip/palate sy...	ClinVar	Detail
NM_003722.5(TP63):c.1681T>G (p.Cys561Gly) AND TP63-Related Spectrum Disorders	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: rs121908843 dbSNP
Genome: hg19
Position: chr3:189,608,606-189,608,606
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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