chr3:71027094: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	chr3:71,027,094-71,027,094
hg38	chr3:70,977,943-70,977,943 View the variant detail on this assembly version.

HGVS

FOXP1

Type	Transcript	Protein
RefSeq	NM_032682.5:c.1233C>T	NP_116071.2:p.Thr411=
	NM_001244816.1:c.672C>T	NP_001231745.1:p.Thr224=
	NM_001244812.1:c.1005C>T	NP_001231741.1:p.Thr335=
	NM_001244815.1:c.930C>T	NP_001231744.1:p.Thr310=
	NM_001244808.1:c.1233C>T	NP_001231737.1:p.Thr411=
	NM_001244814.1:c.1233C>T	NP_001231743.1:p.Thr411=
	NM_001244813.1:c.930C>T	NP_001231742.1:p.Thr310=
Ensemble	ENST00000318789.11:c.1233C>T	ENST00000318789.11:p.Thr411=
	ENST00000468577.6:c.1230C>T	ENST00000468577.6:p.Thr410=
	ENST00000475937.6:c.672C>T	ENST00000475937.6:p.Thr224=
	ENST00000484350.5:c.1005C>T	ENST00000484350.5:p.Thr335=
	ENST00000491238.8:c.930C>T	ENST00000491238.8:p.Thr310=
	ENST00000493089.7:c.1233C>T	ENST00000493089.7:p.Thr411=
	ENST00000497355.7:c.672C>T	ENST00000497355.7:p.Thr224=
	ENST00000498215.7:c.1233C>T	ENST00000498215.7:p.Thr411=
	ENST00000614176.5:c.930C>T	ENST00000614176.5:p.Thr310=
	ENST00000648380.1:c.1233C>T	ENST00000648380.1:p.Thr411=
	ENST00000648426.1:c.1233C>T	ENST00000648426.1:p.Thr411=
	ENST00000648710.2:c.1233C>T	ENST00000648710.2:p.Thr411=
	ENST00000648718.1:c.1233C>T	ENST00000648718.1:p.Thr411=
	ENST00000648748.3:c.933C>T	ENST00000648748.3:p.Thr311=
	ENST00000648794.2:c.930C>T	ENST00000648794.2:p.Thr310=
	ENST00000649528.3:c.1233C>T	ENST00000649528.3:p.Thr411=
	ENST00000649592.1:c.933C>T	ENST00000649592.1:p.Thr311=
	ENST00000649596.1:c.1230C>T	ENST00000649596.1:p.Thr410=
	ENST00000649610.2:c.1230C>T	ENST00000649610.2:p.Thr410=
	ENST00000649631.1:c.1233C>T	ENST00000649631.1:p.Thr411=
	ENST00000649695.3:c.933C>T	ENST00000649695.3:p.Thr311=
	ENST00000650068.2:c.1233C>T	ENST00000650068.2:p.Thr411=
	ENST00000650188.1:c.933C>T	ENST00000650188.1:p.Thr311=
	ENST00000650387.1:c.933C>T	ENST00000650387.1:p.Thr311=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:0.005
	ToMMo:0.006
	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	tgv12957913	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2023-11-24	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Benign	2017-09-25	criteria provided, single submitter	not specified	germline	Detail
Likely benign	2018-05-21	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Likely benign	2019-04-08	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.1233C>T (p.Thr411=) AND not provided	ClinVar	Detail
NM_001349338.3(FOXP1):c.1233C>T (p.Thr411=) AND not specified	ClinVar	Detail
NM_001349338.3(FOXP1):c.1233C>T (p.Thr411=) AND Inborn genetic diseases	ClinVar	Detail
NM_001349338.3(FOXP1):c.1233C>T (p.Thr411=) 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: rs147995584 dbSNP
Genome: hg19
Position: chr3:71,027,094-71,027,094
Variant Type: snv
Reference Allele: G
Alternative Allele: A
Filtering Status (HGVD): PASS
# of samples (HGVD): 1206
Mean of sample read depth (HGVD): 52.70
Standard deviation of sample read depth (HGVD): 22.64
Number of reference allele (HGVD): 2401
Number of alternative allele (HGVD): 11
Allele Frequency (HGVD): 0.004560530679933665
Gene Symbol (HGVD): FOXP1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): rs147995584
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0064
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 107
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760
East Asian Chromosome Counts (ExAC): 8652
East Asian Allele Counts (ExAC): 4
East Asian Heterozygous Counts (ExAC): 4
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 4.623208506703652E-4
Chromosome Counts in All Race (ExAC): 121318
Allele Counts in All Race (ExAC): 88
Heterozygous Counts in All Race (ExAC): 88
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 7.253663924561895E-4

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