chr18:55228999:C>T Detail (hg38) (TCF4)

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

Information

Genome

Assembly	Position
hg19	chr18:52,896,230-52,896,230 View the variant detail on this assembly version.
hg38	chr18:55,228,999-55,228,999

HGVS

TCF4

Type	Transcript	Protein
RefSeq	NM_001243230.1:c.1706G>A	NP_001230159.1:p.Arg569Gln
	NM_001330604.2:c.1754G>A	NP_001317533.1:p.Arg585Gln
	NM_001083962.1:c.1715G>A	NP_001077431.1:p.Arg572Gln
	NM_003199.2:c.1715G>A	NP_003190.1:p.Arg572Gln
	NM_001243226.2:c.2033G>A	NP_001230155.2:p.Arg678Gln
	NM_001243227.1:c.1655G>A	NP_001230156.1:p.Arg552Gln
	NM_001306207.1:c.1643G>A	NP_001293136.1:p.Arg548Gln
	NM_001243234.1:c.1235G>A	NP_001230163.1:p.Arg412Gln
	NM_001243235.1:c.1235G>A	NP_001230164.1:p.Arg412Gln
	NM_001243228.1:c.1745G>A	NP_001230157.1:p.Arg582Gln
	NM_001243231.1:c.1589G>A	NP_001230160.1:p.Arg530Gln
	NM_001243232.1:c.1514G>A	NP_001230161.1:p.Arg505Gln
	NM_001243236.1:c.1235G>A	NP_001230165.1:p.Arg412Gln
	NM_001243233.1:c.1325G>A	NP_001230162.1:p.Arg442Gln
	NM_001306208.1:c.1502G>A	NP_001293137.1:p.Arg501Gln
Ensemble	ENST00000566286.5:c.1706G>A	ENST00000566286.5:p.Arg569Gln
	ENST00000636400.2:c.1655G>A	ENST00000636400.2:p.Arg552Gln
	ENST00000566279.5:c.1547G>A	ENST00000566279.5:p.Arg516Gln
	ENST00000636822.2:c.1337G>A	ENST00000636822.2:p.Arg446Gln
	ENST00000637169.2:c.1079G>A	ENST00000637169.2:p.Arg360Gln
	ENST00000565018.6:c.1463G>A	ENST00000565018.6:p.Arg488Gln
	ENST00000638154.3:c.1754G>A	ENST00000638154.3:p.Arg585Gln
	ENST00000354452.8:c.1727G>A	ENST00000354452.8:p.Arg576Gln
	ENST00000356073.8:c.1715G>A	ENST00000356073.8:p.Arg572Gln
	ENST00000398339.5:c.2033G>A	ENST00000398339.5:p.Arg678Gln
	ENST00000616053.4:c.1463G>A	ENST00000616053.4:p.Arg488Gln
	ENST00000457482.7:c.1247G>A	ENST00000457482.7:p.Arg416Gln
	ENST00000537578.5:c.1655G>A	ENST00000537578.5:p.Arg552Gln
	ENST00000537856.7:c.1325G>A	ENST00000537856.7:p.Arg442Gln
	ENST00000540999.5:c.1643G>A	ENST00000540999.5:p.Arg548Gln
	ENST00000570287.6:c.1235G>A	ENST00000570287.6:p.Arg412Gln
	ENST00000570177.6:c.1325G>A	ENST00000570177.6:p.Arg442Gln
	ENST00000564999.5:c.1715G>A	ENST00000564999.5:p.Arg572Gln
	ENST00000564403.6:c.1745G>A	ENST00000564403.6:p.Arg582Gln
	ENST00000543082.5:c.1589G>A	ENST00000543082.5:p.Arg530Gln
	ENST00000629387.2:c.1727G>A	ENST00000629387.2:p.Arg576Gln
	ENST00000544241.6:c.1514G>A	ENST00000544241.6:p.Arg505Gln
	ENST00000568740.5:c.1640G>A	ENST00000568740.5:p.Arg547Gln
	ENST00000567880.5:c.1535G>A	ENST00000567880.5:p.Arg512Gln
	ENST00000561831.7:c.1235G>A	ENST00000561831.7:p.Arg412Gln
	ENST00000643689.1:c.1337G>A	ENST00000643689.1:p.Arg446Gln
	ENST00000561992.5:c.1325G>A	ENST00000561992.5:p.Arg442Gln
	ENST00000675707.1:c.1337G>A	ENST00000675707.1:p.Arg446Gln
	ENST00000626584.2:c.1067G>A	ENST00000626584.2:p.Arg356Gln
	ENST00000635822.2:c.1607G>A	ENST00000635822.2:p.Arg536Gln
	ENST00000564228.5:c.1502G>A	ENST00000564228.5:p.Arg501Gln
	ENST00000568673.5:c.1655G>A	ENST00000568673.5:p.Arg552Gln

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000083 (TMGS000166)	Kenjiro Kosaki Kenjiro Kosaki	Keio University Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-03-04	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2017-03-23	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2021-03-26	reviewed by expert panel	Pitt-Hopkins syndrome	germline	Detail
Pathogenic	2022-10-29	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.1727G>A (p.Arg576Gln) AND not provided	ClinVar	Detail
NM_001083962.2(TCF4):c.1727G>A (p.Arg576Gln) AND Inborn genetic diseases	ClinVar	Detail
NM_001083962.2(TCF4):c.1727G>A (p.Arg576Gln) AND Pitt-Hopkins syndrome	ClinVar	Detail
NM_001083962.2(TCF4):c.1727G>A (p.Arg576Gln) 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: rs1057521070 dbSNP
Genome: hg38
Position: chr18:55,228,999-55,228,999
Variant Type: snv
Reference Allele: C
Alternative Allele: T

Genome browser

chr18:55228999:C>T Detail (hg38) (TCF4)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript