chr22:30622985:C>T Detail (hg38) (TCN2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr22:31,018,972-31,018,972 View the variant detail on this assembly version.
hg38	chr22:30,622,985-30,622,985

HGVS

TCN2

Type	Transcript	Protein
RefSeq	NM_000355.3:c.1124C>T	NP_000346.2:p.Ser375Phe
	NM_001184726.1:c.1043C>T	NP_001171655.1:p.Ser348Phe
Ensemble	ENST00000215838.8:c.1124C>T	ENST00000215838.8:p.Ser375Phe
	ENST00000405742.7:c.1112C>T	ENST00000405742.7:p.Ser371Phe
	ENST00000407817.3:c.1043C>T	ENST00000407817.3:p.Ser348Phe
	ENST00000450638.5:c.1049C>T	ENST00000450638.5:p.Ser350Phe
	ENST00000698263.1:c.1107-3475C>T
	ENST00000698265.1:c.1109C>T	ENST00000698265.1:p.Ser370Phe
	ENST00000698266.1:c.1124C>T	ENST00000698266.1:p.Ser375Phe
	ENST00000698268.1:c.1151C>T	ENST00000698268.1:p.Ser384Phe
	ENST00000698270.1:c.971C>T	ENST00000698270.1:p.Ser324Phe
	ENST00000698271.1:c.1154C>T	ENST00000698271.1:p.Ser385Phe
	ENST00000698272.1:c.1115C>T	ENST00000698272.1:p.Ser372Phe
	ENST00000698273.1:c.1115C>T	ENST00000698273.1:p.Ser372Phe

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

TCN2

Type	Database	ID	Link
Gene	MIM	613441	OMIM
	HGNC	11653	HGNC
	Ensembl	ENSG00000185339	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
<0.001	Cardiovascular Diseases	We examined five sequence variants, i.e., I23V, G94S, P259R, S348F, and R399Q, i...	BeFree	12194912	Detail

Annotation

Annotations

Descrption	Source	Links
We examined five sequence variants, i.e., I23V, G94S, P259R, S348F, and R399Q, in the TC gene as pos...	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: chr22:30,622,985-30,622,985
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8652
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121390
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): 8.237910865804433E-6

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