chr7:114299672:T>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	chr7:114,299,672-114,299,672
hg38	chr7:114,659,617-114,659,617 View the variant detail on this assembly version.

HGVS

FOXP2

Type	Transcript	Protein
RefSeq	NM_148900.3:c.1642T>C	NP_683698.2:p.Tyr548His
	NM_001172766.2:c.1666T>C	NP_001166237.1:p.Tyr556His
	NM_014491.3:c.1666T>C	NP_055306.1:p.Tyr556His
	NM_148898.3:c.1666T>C	NP_683696.2:p.Tyr556His
Ensemble	ENST00000350908.9:c.1591T>C	ENST00000350908.9:p.Tyr531His
	ENST00000393494.6:c.1591T>C	ENST00000393494.6:p.Tyr531His
	ENST00000393498.6:c.1528T>C	ENST00000393498.6:p.Tyr510His
	ENST00000403559.9:c.1642T>C	ENST00000403559.9:p.Tyr548His
	ENST00000408937.7:c.1666T>C	ENST00000408937.7:p.Tyr556His
	ENST00000634411.1:c.1540T>C	ENST00000634411.1:p.Tyr514His
	ENST00000635534.1:c.1582T>C	ENST00000635534.1:p.Tyr528His
	ENST00000635638.1:c.1594T>C	ENST00000635638.1:p.Tyr532His
	ENST00000703612.1:c.1582T>C	ENST00000703612.1:p.Tyr528His
	ENST00000703613.1:c.1642T>C	ENST00000703613.1:p.Tyr548His
	ENST00000703614.1:c.1591T>C	ENST00000703614.1:p.Tyr531His
	ENST00000703616.1:c.1717T>C	ENST00000703616.1:p.Tyr573His

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
Review star
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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
not provided		no assertion provided	Childhood apraxia of speech	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_014491.4(FOXP2):c.1591T>C (p.Tyr531His) 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: rs879253772 dbSNP
Genome: hg19
Position: chr7:114,299,672-114,299,672
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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