chr18:52937093:C>T Detail (hg19) (TCF4, LOC126862757)

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

Information

Genome

Assembly	Position
hg19	chr18:52,937,093-52,937,093
hg38	chr18:55,269,862-55,269,862 View the variant detail on this assembly version.

HGVS

TCF4

Type	Transcript	Protein
RefSeq	NM_001083962.1:c.891G>A	NP_001077431.1:p.Thr297=
	NM_003199.2:c.891G>A	NP_003190.1:p.Thr297=
	NM_001243226.2:c.1197G>A	NP_001230155.2:p.Thr399=
	NM_001243227.1:c.819G>A	NP_001230156.1:p.Thr273=
	NM_001306207.1:c.819G>A	NP_001293136.1:p.Thr273=
	NM_001243231.1:c.765G>A	NP_001230160.1:p.Thr255=
	NM_001243232.1:c.678G>A	NP_001230161.1:p.Thr226=
	NM_001243236.1:c.411G>A	NP_001230165.1:p.Thr137=
	NM_001243233.1:c.501G>A	NP_001230162.1:p.Thr167=
	NM_001306208.1:c.678G>A	NP_001293137.1:p.Thr226=
	NM_001243228.1:c.909G>A	NP_001230157.1:p.Thr303=
	NM_001243230.1:c.885G>A	NP_001230159.1:p.Thr295=
	NM_001243234.1:c.411G>A	NP_001230163.1:p.Thr137=
	NM_001243235.1:c.411G>A	NP_001230164.1:p.Thr137=
	NM_001330604.2:c.921G>A	NP_001317533.1:p.Thr307=
Ensemble	ENST00000354452.8:c.891G>A	ENST00000354452.8:p.Thr297=
	ENST00000356073.8:c.891G>A	ENST00000356073.8:p.Thr297=
	ENST00000398339.5:c.1197G>A	ENST00000398339.5:p.Thr399=
	ENST00000457482.7:c.411G>A	ENST00000457482.7:p.Thr137=
	ENST00000537578.5:c.819G>A	ENST00000537578.5:p.Thr273=
	ENST00000537856.7:c.501G>A	ENST00000537856.7:p.Thr167=
	ENST00000540999.5:c.819G>A	ENST00000540999.5:p.Thr273=
	ENST00000543082.5:c.765G>A	ENST00000543082.5:p.Thr255=
	ENST00000544241.6:c.678G>A	ENST00000544241.6:p.Thr226=
	ENST00000561831.7:c.411G>A	ENST00000561831.7:p.Thr137=
	ENST00000561992.5:c.501G>A	ENST00000561992.5:p.Thr167=
	ENST00000564228.5:c.678G>A	ENST00000564228.5:p.Thr226=
	ENST00000564403.6:c.909G>A	ENST00000564403.6:p.Thr303=
	ENST00000564999.5:c.891G>A	ENST00000564999.5:p.Thr297=
	ENST00000565018.6:c.639G>A	ENST00000565018.6:p.Thr213=
	ENST00000566279.5:c.711G>A	ENST00000566279.5:p.Thr237=
	ENST00000566286.5:c.885G>A	ENST00000566286.5:p.Thr295=
	ENST00000567880.5:c.711G>A	ENST00000567880.5:p.Thr237=
	ENST00000568673.5:c.819G>A	ENST00000568673.5:p.Thr273=
	ENST00000568740.5:c.816G>A	ENST00000568740.5:p.Thr272=
	ENST00000570177.6:c.501G>A	ENST00000570177.6:p.Thr167=
	ENST00000570287.6:c.411G>A	ENST00000570287.6:p.Thr137=
	ENST00000616053.4:c.639G>A	ENST00000616053.4:p.Thr213=
	ENST00000626584.2:c.243G>A	ENST00000626584.2:p.Thr81=
	ENST00000629387.2:c.891G>A	ENST00000629387.2:p.Thr297=
	ENST00000635822.2:c.891G>A	ENST00000635822.2:p.Thr297=
	ENST00000636400.2:c.819G>A	ENST00000636400.2:p.Thr273=
	ENST00000636822.2:c.501G>A	ENST00000636822.2:p.Thr167=
	ENST00000637169.2:c.243G>A	ENST00000637169.2:p.Thr81=
	ENST00000638154.3:c.921G>A	ENST00000638154.3:p.Thr307=
	ENST00000643689.1:c.501G>A	ENST00000643689.1:p.Thr167=
	ENST00000675707.1:c.501G>A	ENST00000675707.1:p.Thr167=

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	Benign Likely benign
Review star
Show details

Links

TCF4

Type	Database	ID	Link
Gene	MIM	602272	OMIM
	HGNC	11634	HGNC
	Ensembl	ENSG00000196628	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM5364608	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2015-04-15	criteria provided, single submitter	not specified	germline	Detail
Likely benign	2024-01-06	criteria provided, single submitter	Pitt-Hopkins syndrome	germline	Detail
Likely benign	2022-05-01	criteria provided, single submitter	not provided	germline	Detail
Likely benign	2023-12-19	criteria provided, single submitter	TCF4-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001083962.2(TCF4):c.891G>A (p.Thr297=) AND not specified	ClinVar	Detail
NM_001083962.2(TCF4):c.891G>A (p.Thr297=) AND Pitt-Hopkins syndrome	ClinVar	Detail
NM_001083962.2(TCF4):c.891G>A (p.Thr297=) AND not provided	ClinVar	Detail
NM_001083962.2(TCF4):c.891G>A (p.Thr297=) AND TCF4-related disorder	ClinVar	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: rs750408686 dbSNP
Genome: hg19
Position: chr18:52,937,093-52,937,093
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8532
East Asian Allele Counts (ExAC): 2
East Asian Heterozygous Counts (ExAC): 2
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 2.3441162681669012E-4
Chromosome Counts in All Race (ExAC): 120902
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6542323534763693E-5

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