chr3:189868624:C>G 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	chr3:189,586,413-189,586,413 View the variant detail on this assembly version.
hg38	chr3:189,868,624-189,868,624

HGVS

TP63

Type	Transcript	Protein
RefSeq	NM_001114978.1:c.1037C>G	NP_001108450.1:p.Ala346Gly
	NM_003722.4:c.1037C>G	NP_003713.3:p.Ala346Gly
	NM_001114980.1:c.755C>G	NP_001108452.1:p.Ala252Gly
	NM_001114981.1:c.755C>G	NP_001108453.1:p.Ala252Gly
	NM_001114979.1:c.1037C>G	NP_001108451.1:p.Ala346Gly
	NM_001114982.1:c.755C>G	NP_001108454.1:p.Ala252Gly
	NM_001329148.1:c.1037C>G	NP_001316077.1:p.Ala346Gly
Ensemble	ENST00000264731.8:c.1037C>G	ENST00000264731.8:p.Ala346Gly
	ENST00000320472.9:c.1037C>G	ENST00000320472.9:p.Ala346Gly
	ENST00000354600.10:c.755C>G	ENST00000354600.10:p.Ala252Gly
	ENST00000392460.7:c.1037C>G	ENST00000392460.7:p.Ala346Gly
	ENST00000392461.7:c.755C>G	ENST00000392461.7:p.Ala252Gly
	ENST00000392463.6:c.755C>G	ENST00000392463.6:p.Ala252Gly
	ENST00000418709.6:c.1037C>G	ENST00000418709.6:p.Ala346Gly
	ENST00000437221.5:c.755C>G	ENST00000437221.5:p.Ala252Gly
	ENST00000440651.6:c.1037C>G	ENST00000440651.6:p.Ala346Gly
	ENST00000449992.5:c.500C>G	ENST00000449992.5:p.Ala167Gly
	ENST00000456148.1:c.755C>G	ENST00000456148.1:p.Ala252Gly

Summary

MGeND

Clinical significance
Variant entry
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-02-11	criteria provided, single submitter	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	maternal paternal	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

Annotation

Annotations

Descrption	Source	Links
NM_003722.5(TP63):c.1037C>G (p.Ala346Gly) AND Ectrodactyly, ectodermal dysplasia, and cleft lip-pala...	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: rs797044484 dbSNP
Genome: hg38
Position: chr3:189,868,624-189,868,624
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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