chr3:70970756:G>A Detail (hg38) (FOXP1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr3:71,019,907-71,019,907 View the variant detail on this assembly version.
hg38	chr3:70,970,756-70,970,756

HGVS

FOXP1

Type	Transcript	Protein
RefSeq	NM_032682.5:c.1702C>T	NP_116071.2:p.Pro568Ser
	NM_001244816.1:c.1141C>T	NP_001231745.1:p.Pro381Ser
	NM_001244812.1:c.1474C>T	NP_001231741.1:p.Pro492Ser
	NM_001244815.1:c.1399C>T	NP_001231744.1:p.Pro467Ser
	NM_001244808.1:c.1699C>T	NP_001231737.1:p.Pro567Ser
	NM_001244814.1:c.1702C>T	NP_001231743.1:p.Pro568Ser
	NM_001244813.1:c.1399C>T	NP_001231742.1:p.Pro467Ser
Ensemble	ENST00000318789.11:c.1702C>T	ENST00000318789.11:p.Pro568Ser
	ENST00000468577.6:c.1528-4700C>T
	ENST00000475937.6:c.1141C>T	ENST00000475937.6:p.Pro381Ser
	ENST00000484350.5:c.1474C>T	ENST00000484350.5:p.Pro492Ser
	ENST00000491238.8:c.1399C>T	ENST00000491238.8:p.Pro467Ser
	ENST00000493089.7:c.1699C>T	ENST00000493089.7:p.Pro567Ser
	ENST00000497355.7:c.1141C>T	ENST00000497355.7:p.Pro381Ser
	ENST00000498215.7:c.1702C>T	ENST00000498215.7:p.Pro568Ser
	ENST00000614176.5:c.1399C>T	ENST00000614176.5:p.Pro467Ser
	ENST00000648380.1:c.1702C>T	ENST00000648380.1:p.Pro568Ser
	ENST00000648426.1:c.1750C>T	ENST00000648426.1:p.Pro584Ser
	ENST00000648710.2:c.1699C>T	ENST00000648710.2:p.Pro567Ser
	ENST00000648718.1:c.1699C>T	ENST00000648718.1:p.Pro567Ser
	ENST00000648748.3:c.1402C>T	ENST00000648748.3:p.Pro468Ser
	ENST00000648794.2:c.1399C>T	ENST00000648794.2:p.Pro467Ser
	ENST00000649528.3:c.1702C>T	ENST00000649528.3:p.Pro568Ser
	ENST00000649592.1:c.1402C>T	ENST00000649592.1:p.Pro468Ser
	ENST00000649596.1:c.1696C>T	ENST00000649596.1:p.Pro566Ser
	ENST00000649610.2:c.1699C>T	ENST00000649610.2:p.Pro567Ser
	ENST00000649631.1:c.1702C>T	ENST00000649631.1:p.Pro568Ser
	ENST00000649695.3:c.1399C>T	ENST00000649695.3:p.Pro467Ser
	ENST00000650068.2:c.1702C>T	ENST00000650068.2:p.Pro568Ser
	ENST00000650188.1:c.1399C>T	ENST00000650188.1:p.Pro467Ser
	ENST00000650387.1:c.1402C>T	ENST00000650387.1:p.Pro468Ser

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

FOXP1

Type	Database	ID	Link
Gene	MIM	605515	OMIM
	HGNC	3823	HGNC
	Ensembl	ENSG00000114861	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv318915221	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
association	2013-05-21	no assertion criteria provided	Aortic valve atresia,Mitral atresia disorder,Hypoplastic left heart syndrome 1	not provided	Detail
association	2013-05-21	no assertion criteria provided	Aortic valve atresia,Mitral atresia disorder,Hypoplastic left heart syndrome 1	not provided	Detail
association	2013-05-21	no assertion criteria provided	Aortic valve atresia,Mitral atresia disorder,Hypoplastic left heart syndrome 1	not provided	Detail
association	2013-05-21	no assertion criteria provided	Familial atrioventricular septal defect,visceral heterotaxy,Pulmonary atresia with ventricular septal defect,Single Ventricle Defect	not provided	Detail
association	2013-05-21	no assertion criteria provided	Familial atrioventricular septal defect,visceral heterotaxy,Pulmonary atresia with ventricular septal defect,Single Ventricle Defect	not provided	Detail
association	2013-05-21	no assertion criteria provided	Familial atrioventricular septal defect,visceral heterotaxy,Pulmonary atresia with ventricular septal defect,Single Ventricle Defect	not provided	Detail
association	2013-05-21	no assertion criteria provided	Familial atrioventricular septal defect,visceral heterotaxy,Pulmonary atresia with ventricular septal defect,Single Ventricle Defect	not provided	Detail
Benign	2014-05-27	criteria provided, single submitter	not specified	germline	Detail
Benign Likely benign	2024-01-17	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Benign	2019-04-05	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Likely benign	2019-07-01	criteria provided, single submitter	FOXP1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser) AND multiple conditions	ClinVar	Detail
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser) AND multiple conditions	ClinVar	Detail
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser) AND multiple conditions	ClinVar	Detail
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser) AND multiple conditions	ClinVar	Detail
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser) AND multiple conditions	ClinVar	Detail
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser) AND multiple conditions	ClinVar	Detail
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser) AND multiple conditions	ClinVar	Detail
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser) AND not specified	ClinVar	Detail
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser) AND not provided	ClinVar	Detail
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser) AND Inborn genetic diseases	ClinVar	Detail
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser) AND FOXP1-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: rs147674680 dbSNP
Genome: hg38
Position: chr3:70,970,756-70,970,756
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8654
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): 121412
Allele Counts in All Race (ExAC): 52
Heterozygous Counts in All Race (ExAC): 52
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.2829374361677596E-4

Genome browser