chr3:189868597:G>A 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	chr3:189,586,386-189,586,386 View the variant detail on this assembly version.
hg38	chr3:189,868,597-189,868,597

HGVS

TP63

Type	Transcript	Protein
RefSeq	NM_001114978.1:c.1010G>A	NP_001108450.1:p.Arg337Gln
	NM_003722.4:c.1010G>A	NP_003713.3:p.Arg337Gln
	NM_001114980.1:c.728G>A	NP_001108452.1:p.Arg243Gln
	NM_001114981.1:c.728G>A	NP_001108453.1:p.Arg243Gln
	NM_001114979.1:c.1010G>A	NP_001108451.1:p.Arg337Gln
	NM_001114982.1:c.728G>A	NP_001108454.1:p.Arg243Gln
	NM_001329148.1:c.1010G>A	NP_001316077.1:p.Arg337Gln
Ensemble	ENST00000264731.8:c.1010G>A	ENST00000264731.8:p.Arg337Gln
	ENST00000320472.9:c.1010G>A	ENST00000320472.9:p.Arg337Gln
	ENST00000354600.10:c.728G>A	ENST00000354600.10:p.Arg243Gln
	ENST00000392460.7:c.1010G>A	ENST00000392460.7:p.Arg337Gln
	ENST00000392461.7:c.728G>A	ENST00000392461.7:p.Arg243Gln
	ENST00000392463.6:c.728G>A	ENST00000392463.6:p.Arg243Gln
	ENST00000418709.6:c.1010G>A	ENST00000418709.6:p.Arg337Gln
	ENST00000437221.5:c.728G>A	ENST00000437221.5:p.Arg243Gln
	ENST00000440651.6:c.1010G>A	ENST00000440651.6:p.Arg337Gln
	ENST00000449992.5:c.473G>A	ENST00000449992.5:p.Arg158Gln
	ENST00000456148.1:c.728G>A	ENST00000456148.1:p.Arg243Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	COSM6925997	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2008-09-01	no assertion criteria provided	ADULT syndrome	germline	Detail
Pathogenic	2023-11-27	criteria provided, single submitter	TP63-Related Spectrum Disorders	germline	Detail
Likely pathogenic	2021-04-23	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.483	ADULT syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_003722.5(TP63):c.1010G>A (p.Arg337Gln) AND ADULT syndrome	ClinVar	Detail
NM_003722.5(TP63):c.1010G>A (p.Arg337Gln) AND TP63-Related Spectrum Disorders	ClinVar	Detail
NM_003722.5(TP63):c.1010G>A (p.Arg337Gln) AND not provided	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: rs113993967 dbSNP
Genome: hg38
Position: chr3:189,868,597-189,868,597
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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