chr3:71021818:G>A Detail (hg19) (FOXP1)

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

Genome

Assembly	Position
hg19	chr3:71,021,818-71,021,818
hg38	chr3:70,972,667-70,972,667 View the variant detail on this assembly version.

HGVS

FOXP1

Type	Transcript	Protein
RefSeq	NM_032682.5:c.1540C>T	NP_116071.2:p.Arg514Cys
	NM_001244816.1:c.979C>T	NP_001231745.1:p.Arg327Cys
	NM_001244812.1:c.1312C>T	NP_001231741.1:p.Arg438Cys
	NM_001244815.1:c.1237C>T	NP_001231744.1:p.Arg413Cys
	NM_001244808.1:c.1537C>T	NP_001231737.1:p.Arg513Cys
	NM_001244814.1:c.1540C>T	NP_001231743.1:p.Arg514Cys
	NM_001244813.1:c.1237C>T	NP_001231742.1:p.Arg413Cys
Ensemble	ENST00000318789.11:c.1540C>T	ENST00000318789.11:p.Arg514Cys
	ENST00000468577.6:c.1527+4274C>T
	ENST00000475937.6:c.979C>T	ENST00000475937.6:p.Arg327Cys
	ENST00000484350.5:c.1312C>T	ENST00000484350.5:p.Arg438Cys
	ENST00000491238.8:c.1237C>T	ENST00000491238.8:p.Arg413Cys
	ENST00000493089.7:c.1537C>T	ENST00000493089.7:p.Arg513Cys
	ENST00000497355.7:c.979C>T	ENST00000497355.7:p.Arg327Cys
	ENST00000498215.7:c.1540C>T	ENST00000498215.7:p.Arg514Cys
	ENST00000614176.5:c.1237C>T	ENST00000614176.5:p.Arg413Cys
	ENST00000648380.1:c.1540C>T	ENST00000648380.1:p.Arg514Cys
	ENST00000648426.1:c.1531-487C>T
	ENST00000648710.2:c.1537C>T	ENST00000648710.2:p.Arg513Cys
	ENST00000648718.1:c.1537C>T	ENST00000648718.1:p.Arg513Cys
	ENST00000648748.3:c.1240C>T	ENST00000648748.3:p.Arg414Cys
	ENST00000648794.2:c.1237C>T	ENST00000648794.2:p.Arg413Cys
	ENST00000649528.3:c.1540C>T	ENST00000649528.3:p.Arg514Cys
	ENST00000649592.1:c.1240C>T	ENST00000649592.1:p.Arg414Cys
	ENST00000649596.1:c.1534C>T	ENST00000649596.1:p.Arg512Cys
	ENST00000649610.2:c.1537C>T	ENST00000649610.2:p.Arg513Cys
	ENST00000649631.1:c.1540C>T	ENST00000649631.1:p.Arg514Cys
	ENST00000649695.3:c.1237C>T	ENST00000649695.3:p.Arg413Cys
	ENST00000650068.2:c.1540C>T	ENST00000650068.2:p.Arg514Cys
	ENST00000650188.1:c.1237C>T	ENST00000650188.1:p.Arg413Cys
	ENST00000650387.1:c.1240C>T	ENST00000650387.1:p.Arg414Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-01-05	criteria provided, multiple submitters, no conflicts	intellectual disability-severe speech delay-mild dysmorphism syndrome	de novo germline not applicable	Detail
Pathogenic	2023-12-18	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-01-06	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.1540C>T (p.Arg514Cys) AND Intellectual disability-severe speech delay-mild d...	ClinVar	Detail
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) AND not provided	ClinVar	Detail
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) 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: rs869025203 dbSNP
Genome: hg19
Position: chr3:71,021,818-71,021,818
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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