chr3:189890874:T>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	chr3:189,608,663-189,608,663 View the variant detail on this assembly version.
hg38	chr3:189,890,874-189,890,874

HGVS

TP63

Type	Transcript	Protein
RefSeq	NM_001114980.1:c.1456T>G	NP_001108452.1:p.Ser486Ala
	NM_001114981.1:c.1456T>G	NP_001108453.1:p.Ser486Ala
	NM_001329148.1:c.1726T>G	NP_001316077.1:p.Ser576Ala
	NM_001114978.1:c.1738T>G	NP_001108450.1:p.Ser580Ala
	NM_003722.4:c.1738T>G	NP_003713.3:p.Ser580Ala
Ensemble	ENST00000354600.10:c.1456T>G	ENST00000354600.10:p.Ser486Ala
	ENST00000392460.7:c.1652+1390T>G
	ENST00000392461.7:c.1226-3332T>G
	ENST00000392463.6:c.1370+1390T>G
	ENST00000440651.6:c.1726T>G	ENST00000440651.6:p.Ser576Ala
	ENST00000449992.5:c.1201T>G	ENST00000449992.5:p.Ser401Ala
	ENST00000456148.1:c.1444T>G	ENST00000456148.1:p.Ser482Ala
	ENST00000264731.8:c.1738T>G	ENST00000264731.8:p.Ser580Ala
	ENST00000320472.9:c.1508-3332T>G

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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

[No Data.]

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
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: -
Genome: hg38
Position: chr3:189,890,874-189,890,874
Variant Type: snv
Reference Allele: T
Alternative Allele: G
East Asian Allele Frequency (ExAC): 0.0
East Asian Chromosome Counts (ExAC): 8622
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
Chromosome Counts in All Race (ExAC): 120922
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.269793751343841E-6

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