chr7:114282671:C>T 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	chr7:114,282,671-114,282,671
hg38	chr7:114,642,616-114,642,616 View the variant detail on this assembly version.

HGVS

FOXP2

Type	Transcript	Protein
RefSeq	NM_148899.3:c.982C>T	NP_683697.2:p.Arg328Ter
	NM_001172767.2:c.1054C>T	NP_001166238.1:p.Arg352Ter
	NM_148900.3:c.1033C>T	NP_683698.2:p.Arg345Ter
	NM_001172766.2:c.1057C>T	NP_001166237.1:p.Arg353Ter
	NM_014491.3:c.1057C>T	NP_055306.1:p.Arg353Ter
	NM_148898.3:c.1057C>T	NP_683696.2:p.Arg353Ter
Ensemble	ENST00000350908.9:c.982C>T	ENST00000350908.9:p.Arg328Ter
	ENST00000360232.8:c.982C>T	ENST00000360232.8:p.Arg328Ter
	ENST00000378237.7:c.982C>T	ENST00000378237.7:p.Arg328Ter
	ENST00000390668.3:c.1054C>T	ENST00000390668.3:p.Arg352Ter
	ENST00000393494.6:c.982C>T	ENST00000393494.6:p.Arg328Ter
	ENST00000393498.6:c.919C>T	ENST00000393498.6:p.Arg307Ter
	ENST00000403559.9:c.1033C>T	ENST00000403559.9:p.Arg345Ter
	ENST00000408937.7:c.1057C>T	ENST00000408937.7:p.Arg353Ter
	ENST00000634411.1:c.931C>T	ENST00000634411.1:p.Arg311Ter
	ENST00000635534.1:c.973C>T	ENST00000635534.1:p.Arg325Ter
	ENST00000635638.1:c.985C>T	ENST00000635638.1:p.Arg329Ter
	ENST00000703612.1:c.973C>T	ENST00000703612.1:p.Arg325Ter
	ENST00000703613.1:c.1033C>T	ENST00000703613.1:p.Arg345Ter
	ENST00000703614.1:c.982C>T	ENST00000703614.1:p.Arg328Ter
	ENST00000703616.1:c.1108C>T	ENST00000703616.1:p.Arg370Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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
Pathogenic	2022-06-24	criteria provided, single submitter	Childhood apraxia of speech	germline	Detail
Pathogenic	2021-02-01	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2021-03-30	criteria provided, single submitter	Inborn genetic diseases	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.484	Apraxia, Developmental Verbal	NA	CLINVAR		Detail
0.484	Apraxia, Developmental Verbal	This inhibition is diminished by two distinct FOXP2 point mutations, R553H and R...	BeFree	22434823	Detail

Annotation

Annotations

Descrption	Source	Links
NM_014491.4(FOXP2):c.982C>T (p.Arg328Ter) AND Childhood apraxia of speech	ClinVar	Detail
NM_014491.4(FOXP2):c.982C>T (p.Arg328Ter) AND not provided	ClinVar	Detail
NM_014491.4(FOXP2):c.982C>T (p.Arg328Ter) AND Inborn genetic diseases	ClinVar	Detail
NA	DisGeNET	Detail
This inhibition is diminished by two distinct FOXP2 point mutations, R553H and R328X, which were pre...	DisGeNET	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: rs121908378 dbSNP
Genome: hg19
Position: chr7:114,282,671-114,282,671
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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