chr3:71019907:G>A Detail (hg19) (FOXP1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:71,019,907-71,019,907 |
hg38 | chr3:70,970,756-70,970,756 View the variant detail on this assembly version. |
HGVS
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 |
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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2013-05-21 | no assertion criteria provided | Aortic valve atresia,Mitral atresia disorder,Hypoplastic left heart syndrome 1 |
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Detail |
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2013-05-21 | no assertion criteria provided | Aortic valve atresia,Mitral atresia disorder,Hypoplastic left heart syndrome 1 |
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Detail |
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2013-05-21 | no assertion criteria provided | Aortic valve atresia,Mitral atresia disorder,Hypoplastic left heart syndrome 1 |
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Detail |
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2013-05-21 | no assertion criteria provided | Familial atrioventricular septal defect,visceral heterotaxy,Pulmonary atresia with ventricular septal defect,Single Ventricle Defect |
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Detail |
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2013-05-21 | no assertion criteria provided | Familial atrioventricular septal defect,visceral heterotaxy,Pulmonary atresia with ventricular septal defect,Single Ventricle Defect |
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Detail |
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2013-05-21 | no assertion criteria provided | Familial atrioventricular septal defect,visceral heterotaxy,Pulmonary atresia with ventricular septal defect,Single Ventricle Defect |
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Detail |
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2013-05-21 | no assertion criteria provided | Familial atrioventricular septal defect,visceral heterotaxy,Pulmonary atresia with ventricular septal defect,Single Ventricle Defect |
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Detail |
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2014-05-27 | criteria provided, single submitter | not specified |
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Detail |
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2024-01-17 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2019-04-05 | criteria provided, single submitter | Inborn genetic diseases |
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Detail |
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2019-07-01 | criteria provided, single submitter | FOXP1-related disorder |
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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
- hg19
- Position
- chr3:71,019,907-71,019,907
- 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
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