chr10:113165792:C>T Detail (hg38) (TCF7L2)

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

Information

Genome

Assembly	Position
hg19	chr10:114,925,551-114,925,551 View the variant detail on this assembly version.
hg38	chr10:113,165,792-113,165,792

HGVS

TCF7L2

Type	Transcript	Protein
RefSeq	NM_001146283.1:c.*158C>T
	NM_030756.4:c.1611C>T	NP_110383.2:p.Ala537=
	NM_001146286.1:c.*158C>T
	NM_001198530.1:c.*158C>T
	NM_001146284.1:c.*158C>T
	NM_001198529.1:c.*158C>T
	NM_001198531.1:c.*158C>T
	NM_001198525.1:c.*268C>T
	NM_001146274.1:c.1629C>T	NP_001139746.1:p.Ala543=
Ensemble	ENST00000277945.12:c.1560C>T	ENST00000277945.12:p.Ala520=
	ENST00000355717.9:c.*158C>T
	ENST00000355995.9:c.1680C>T	ENST00000355995.9:p.Ala560=
	ENST00000369397.8:c.1611C>T	ENST00000369397.8:p.Ala537=
	ENST00000534894.5:c.*158C>T
	ENST00000538897.5:c.*158C>T
	ENST00000545257.6:c.*268C>T
	ENST00000627217.3:c.1629C>T	ENST00000627217.3:p.Ala543=
	ENST00000629706.2:c.1575C>T	ENST00000629706.2:p.Ala525=

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	Likely benign
Review star
Show details

Links

TCF7L2

Type	Database	ID	Link
Gene	MIM	602228	OMIM
	HGNC	11641	HGNC
	Ensembl	ENSG00000148737	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv370074569	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2019-02-18	criteria provided, single submitter	TCF7L2-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.144	Metabolic syndrome X	The minor allele of rs9939609 (FTO), rs7903146 (TCF7L2), C56G (APOA5), T1131C (A...	BeFree	21749608	Detail
0.101	Metabolic syndrome X	The minor allele of rs9939609 (FTO), rs7903146 (TCF7L2), C56G (APOA5), T1131C (A...	BeFree	21749608	Detail
0.129	Metabolic syndrome X	The minor allele of rs9939609 (FTO), rs7903146 (TCF7L2), C56G (APOA5), T1131C (A...	BeFree	21749608	Detail
0.171	Metabolic syndrome X	The minor allele of rs9939609 (FTO), rs7903146 (TCF7L2), C56G (APOA5), T1131C (A...	BeFree	21749608	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001367943.1(TCF7L2):c.1680C>T (p.Ala560=) AND TCF7L2-related disorder	ClinVar	Detail
The minor allele of rs9939609 (FTO), rs7903146 (TCF7L2), C56G (APOA5), T1131C (APOA5), C482T (APOC3)...	DisGeNET	Detail
The minor allele of rs9939609 (FTO), rs7903146 (TCF7L2), C56G (APOA5), T1131C (APOA5), C482T (APOC3)...	DisGeNET	Detail
The minor allele of rs9939609 (FTO), rs7903146 (TCF7L2), C56G (APOA5), T1131C (APOA5), C482T (APOC3)...	DisGeNET	Detail
The minor allele of rs9939609 (FTO), rs7903146 (TCF7L2), C56G (APOA5), T1131C (APOA5), C482T (APOC3)...	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: chr10:113,165,792-113,165,792
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8560
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): 116338
Allele Counts in All Race (ExAC): 12
Heterozygous Counts in All Race (ExAC): 12
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.0314772473310527E-4

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