chr7:114663447:>T Detail (hg38) (FOXP2)

Information

Genome

Assembly Position
hg19 chr7:114,303,502-114,303,502 
hg38 chr7:114,663,447-114,663,447

HGVS

Type Transcript Protein
RefSeq NM_148900.3:c.1821-4_1821-3insT
NM_001172766.2:c.1845-4_1845-3insT
NM_014491.3:c.1845-4_1845-3insT
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.142
ToMMo:0.064
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.172

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 605317 OMIM
HGNC 13875 HGNC
Ensembl ENSG00000128573 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv30654604 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2013-12-26 criteria provided, single submitter not specified germline Detail
Uncertain significance 2016-06-14 criteria provided, single submitter Childhood apraxia of speech germline Detail
Benign 2018-04-16 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_014491.4(FOXP2):c.1770-4dup AND not specified ClinVar Detail
NM_014491.4(FOXP2):c.1770-4dup AND Childhood apraxia of speech ClinVar Detail
NM_014491.4(FOXP2):c.1770-4dup AND Inborn genetic diseases ClinVar Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs398005923 dbSNP
Genome
hg38
Position
chr7:114,663,447-114,663,447
Variant Type
snv
Reference Allele
-
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
837
Mean of sample read depth (HGVD)
38.90
Standard deviation of sample read depth (HGVD)
16.68
Number of reference allele (HGVD)
1425
Number of alternative allele (HGVD)
235
Allele Frequency (HGVD)
0.14156626506024098
Gene Symbol (HGVD)
FOXP2
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))
rs398005923
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0637
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1068
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
7498
East Asian Allele Counts (ExAC)
1293
East Asian Heterozygous Counts (ExAC)
1130
East Asian Homozygous Counts (ExAC)
79
East Asian Allele Frequency (ExAC)
0.17244598559615898
Chromosome Counts in All Race (ExAC)
108290
Allele Counts in All Race (ExAC)
39375
Heterozygous Counts in All Race (ExAC)
26459
Homozygous Counts in All Race (ExAC)
6238
Allele Frequency in All Race (ExAC)
0.36360698125404006
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