chr7:114303524:A>C Detail (hg19) (FOXP2)

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

Genome

Assembly	Position
hg19	chr7:114,303,524-114,303,524
hg38	chr7:114,663,469-114,663,469 View the variant detail on this assembly version.

HGVS

FOXP2

Type	Transcript	Protein
RefSeq	NM_148900.3:c.1840A>C	NP_683698.2:p.Asn614His
	NM_001172766.2:c.1864A>C	NP_001166237.1:p.Asn622His
	NM_014491.3:c.1864A>C	NP_055306.1:p.Asn622His
	NM_148898.3:c.1864A>C	NP_683696.2:p.Asn622His
Ensemble	ENST00000350908.9:c.1789A>C	ENST00000350908.9:p.Asn597His
	ENST00000393494.6:c.1789A>C	ENST00000393494.6:p.Asn597His
	ENST00000393498.6:c.1726A>C	ENST00000393498.6:p.Asn576His
	ENST00000403559.9:c.1840A>C	ENST00000403559.9:p.Asn614His
	ENST00000408937.7:c.1864A>C	ENST00000408937.7:p.Asn622His
	ENST00000634411.1:c.1738A>C	ENST00000634411.1:p.Asn580His
	ENST00000635534.1:c.1780A>C	ENST00000635534.1:p.Asn594His
	ENST00000635638.1:c.1792A>C	ENST00000635638.1:p.Asn598His
	ENST00000703612.1:c.1780A>C	ENST00000703612.1:p.Asn594His
	ENST00000703613.1:c.1840A>C	ENST00000703613.1:p.Asn614His
	ENST00000703614.1:c.1789A>C	ENST00000703614.1:p.Asn597His
	ENST00000703616.1:c.1915A>C	ENST00000703616.1:p.Asn639His

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	Uncertain significance
Review star
Show details

Links

FOXP2

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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2018-01-13	criteria provided, single submitter	Childhood apraxia of speech	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_014491.4(FOXP2):c.1789A>C (p.Asn597His) AND Childhood apraxia of speech	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: rs766476648 dbSNP
Genome: hg19
Position: chr7:114,303,524-114,303,524
Variant Type: snv
Reference Allele: A
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8604
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): 120986
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.26541913940456E-6

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