chr7:114662075:G>A Detail (hg38) (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	chr7:114,302,130-114,302,130 View the variant detail on this assembly version.
hg38	chr7:114,662,075-114,662,075

HGVS

FOXP2

Type	Transcript	Protein
RefSeq	NM_148900.3:c.1709G>A	NP_683698.2:p.Arg570His
	NM_001172766.2:c.1733G>A	NP_001166237.1:p.Arg578His
	NM_014491.3:c.1733G>A	NP_055306.1:p.Arg578His
	NM_148898.3:c.1733G>A	NP_683696.2:p.Arg578His
Ensemble	ENST00000350908.9:c.1658G>A	ENST00000350908.9:p.Arg553His
	ENST00000393494.6:c.1658G>A	ENST00000393494.6:p.Arg553His
	ENST00000393498.6:c.1595G>A	ENST00000393498.6:p.Arg532His
	ENST00000403559.9:c.1709G>A	ENST00000403559.9:p.Arg570His
	ENST00000408937.7:c.1733G>A	ENST00000408937.7:p.Arg578His
	ENST00000634411.1:c.1607G>A	ENST00000634411.1:p.Arg536His
	ENST00000635534.1:c.1649G>A	ENST00000635534.1:p.Arg550His
	ENST00000635638.1:c.1661G>A	ENST00000635638.1:p.Arg554His
	ENST00000703612.1:c.1649G>A	ENST00000703612.1:p.Arg550His
	ENST00000703613.1:c.1709G>A	ENST00000703613.1:p.Arg570His
	ENST00000703614.1:c.1658G>A	ENST00000703614.1:p.Arg553His
	ENST00000703616.1:c.1784G>A	ENST00000703616.1:p.Arg595His

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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 Likely pathogenic	2022-10-26	criteria provided, multiple submitters, no conflicts	Childhood apraxia of speech	de novo germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.008	Speech and language disorder	FOXP2 promotes the nuclear translocation of POT1, but FOXP2(R553H), mutation rel...	BeFree	21684252	Detail
0.008	Speech and language disorder	The R553H mutation has been found in the FOXP2 gene of patients with speech-lang...	BeFree	24607928	Detail
0.008	Speech and language disorder	Foxp2(R552H) knock-in (KI) mouse pups with a mutation related to human speech-la...	BeFree	22272290	Detail
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
0.008	Speech and language disorder	FOXP2, a forkhead box-containing transcription factor, forms homo- or hetero-dim...	BeFree	21985339	Detail
0.008	Speech and language disorder	A point mutation in the forkhead domain of FOXP2 (R553H) is responsible for a se...	BeFree	14997560	Detail
0.002	Intestinal Diseases	A point mutation in the forkhead domain of FOXP2 (R553H) is responsible for a se...	BeFree	14997560	Detail

Annotation

Annotations

Descrption	Source	Links
NM_014491.4(FOXP2):c.1658G>A (p.Arg553His) AND Childhood apraxia of speech	ClinVar	Detail
FOXP2 promotes the nuclear translocation of POT1, but FOXP2(R553H), mutation related to speech-langu...	DisGeNET	Detail
The R553H mutation has been found in the FOXP2 gene of patients with speech-language disorder.	DisGeNET	Detail
Foxp2(R552H) knock-in (KI) mouse pups with a mutation related to human speech-language disorders exh...	DisGeNET	Detail
NA	DisGeNET	Detail
This inhibition is diminished by two distinct FOXP2 point mutations, R553H and R328X, which were pre...	DisGeNET	Detail
FOXP2, a forkhead box-containing transcription factor, forms homo- or hetero-dimers with FOXP family...	DisGeNET	Detail
A point mutation in the forkhead domain of FOXP2 (R553H) is responsible for a severe speech and lang...	DisGeNET	Detail
A point mutation in the forkhead domain of FOXP2 (R553H) is responsible for a severe speech and lang...	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: rs121908377 dbSNP
Genome: hg38
Position: chr7:114,662,075-114,662,075
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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