chr8:11566084:G>T Detail (hg19) (GATA4)

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

Genome

Assembly	Position
hg19	chr8:11,566,084-11,566,084
hg38	chr8:11,708,575-11,708,575 View the variant detail on this assembly version.

HGVS

GATA4

Type	Transcript	Protein
RefSeq	NM_001308093.1:c.263G>T	NP_001295022.1:p.Gly88Val
	NM_002052.4:c.263G>T	NP_002043.2:p.Gly88Val
	NM_001308094.1:c.-6+7797G>T
Ensemble	ENST00000335135.8:c.263G>T	ENST00000335135.8:p.Gly88Val
	ENST00000528712.5:c.-6+7797G>T
	ENST00000532059.6:c.263G>T	ENST00000532059.6:p.Gly88Val
	ENST00000622443.3:c.263G>T	ENST00000622443.3:p.Gly88Val

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
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Links

GATA4

Type	Database	ID	Link
Gene	MIM	600576	OMIM
	HGNC	4173	HGNC
	Ensembl	ENSG00000136574	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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2022-02-03	criteria provided, single submitter	Atrioventricular septal defect 4	germline	Detail
Uncertain significance	2018-10-31	criteria provided, single submitter	Atrial septal defect 2,Testicular anomalies with or without congenital heart disease,Ventricular septal defect 1,Atrioventricular septal defect 4,tetralogy of Fallot	unknown	Detail
Uncertain significance	2018-10-31	criteria provided, single submitter	Atrial septal defect 2,Testicular anomalies with or without congenital heart disease,Ventricular septal defect 1,Atrioventricular septal defect 4,tetralogy of Fallot	unknown	Detail
Uncertain significance	2018-10-31	criteria provided, single submitter	Atrial septal defect 2,Testicular anomalies with or without congenital heart disease,Ventricular septal defect 1,Atrioventricular septal defect 4,tetralogy of Fallot	unknown	Detail
Uncertain significance	2018-10-31	criteria provided, single submitter	Atrial septal defect 2,Testicular anomalies with or without congenital heart disease,Ventricular septal defect 1,Atrioventricular septal defect 4,tetralogy of Fallot	unknown	Detail
Uncertain significance	2018-10-31	criteria provided, single submitter	Atrial septal defect 2,Testicular anomalies with or without congenital heart disease,Ventricular septal defect 1,Atrioventricular septal defect 4,tetralogy of Fallot	unknown	Detail
Uncertain significance	2020-11-11	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001308093.3(GATA4):c.263G>T (p.Gly88Val) AND Atrioventricular septal defect 4	ClinVar	Detail
NM_001308093.3(GATA4):c.263G>T (p.Gly88Val) AND multiple conditions	ClinVar	Detail
NM_001308093.3(GATA4):c.263G>T (p.Gly88Val) AND multiple conditions	ClinVar	Detail
NM_001308093.3(GATA4):c.263G>T (p.Gly88Val) AND multiple conditions	ClinVar	Detail
NM_001308093.3(GATA4):c.263G>T (p.Gly88Val) AND multiple conditions	ClinVar	Detail
NM_001308093.3(GATA4):c.263G>T (p.Gly88Val) AND multiple conditions	ClinVar	Detail
NM_001308093.3(GATA4):c.263G>T (p.Gly88Val) AND not provided	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: rs980402710 dbSNP
Genome: hg19
Position: chr8:11,566,084-11,566,084
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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