chr10:123279566:T>G Detail (hg19) (FGFR2)

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

Genome

Assembly	Position
hg19	chr10:123,279,566-123,279,566
hg38	chr10:121,520,052-121,520,052 View the variant detail on this assembly version.

HGVS

FGFR2

Type	Transcript	Protein
RefSeq	NM_022970.3:c.866A>C	NP_075259.4:p.Gln289Pro
	NM_001144916.1:c.521A>C	NP_001138388.1:p.Gln174Pro
	NM_001144918.1:c.521A>C	NP_001138390.1:p.Gln174Pro
	NM_001144914.1:c.749-4733A>C
	NM_001144915.1:c.599A>C	NP_001138387.1:p.Gln200Pro
	NM_001144919.1:c.599A>C	NP_001138391.1:p.Gln200Pro
	NM_000141.4:c.866A>C	NP_000132.3:p.Gln289Pro
	NM_001144917.1:c.866A>C	NP_001138389.1:p.Gln289Pro
	NM_001144913.1:c.866A>C	NP_001138385.1:p.Gln289Pro
	NM_001320654.1:c.182A>C	NP_001307583.1:p.Gln61Pro
	NM_001320658.1:c.599A>C	NP_001307587.1:p.Gln200Pro
	NM_023029.2:c.599A>C	NP_075418.1:p.Gln200Pro
Ensemble	ENST00000457416.7:c.866A>C	ENST00000457416.7:p.Gln289Pro
	ENST00000684153.1:c.521A>C	ENST00000684153.1:p.Gln174Pro
	ENST00000356226.8:c.521A>C	ENST00000356226.8:p.Gln174Pro
	ENST00000369061.8:c.749-4733A>C
	ENST00000346997.6:c.866A>C	ENST00000346997.6:p.Gln289Pro
	ENST00000682772.1:c.-305A>C
	ENST00000357555.9:c.599A>C	ENST00000357555.9:p.Gln200Pro
	ENST00000683211.1:c.866A>C	ENST00000683211.1:p.Gln289Pro
	ENST00000360144.7:c.599A>C	ENST00000360144.7:p.Gln200Pro
	ENST00000351936.11:c.866A>C	ENST00000351936.11:p.Gln289Pro
	ENST00000358487.10:c.866A>C	ENST00000358487.10:p.Gln289Pro
	ENST00000369060.8:c.866A>C	ENST00000369060.8:p.Gln289Pro
	ENST00000369059.5:c.521A>C	ENST00000369059.5:p.Gln174Pro
	ENST00000369056.5:c.866A>C	ENST00000369056.5:p.Gln289Pro
	ENST00000638709.2:c.-305A>C
	ENST00000478859.5:c.182A>C	ENST00000478859.5:p.Gln61Pro
	ENST00000682550.1:c.521A>C	ENST00000682550.1:p.Gln174Pro
	ENST00000613048.4:c.599A>C	ENST00000613048.4:p.Gln200Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

FGFR2

Type	Database	ID	Link
Gene	MIM	176943	OMIM
	HGNC	3689	HGNC
	Ensembl	ENSG00000066468	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	1996-03-01	no assertion criteria provided	Crouzon syndrome	germline	Detail
Pathogenic	1996-03-01	no assertion criteria provided	Jackson-Weiss syndrome	germline	Detail
Pathogenic	2024-03-17	criteria provided, multiple submitters, no conflicts	Pfeiffer syndrome	germline	Detail
Pathogenic	2023-12-18	criteria provided, single submitter	FGFR2-related craniosynostosis	germline	Detail
Pathogenic	2023-03-08	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.255	Craniofacial Dysostosis	NA	CLINVAR		Detail
0.481	Jackson-Weiss syndrome	NA	CLINVAR		Detail
0.332	Craniofacial dysostosis type 1	Using the published primers for PCR, a patient with Crouzon syndrome was found t...	BeFree	11484208	Detail
0.255	Craniofacial Dysostosis	Using the published primers for PCR, a patient with Crouzon syndrome was found t...	BeFree	11484208	Detail
0.010	ACROCEPHALOPOLYSYNDACTYLY TYPE IV	Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer...	BeFree	19066959	Detail
0.241	Saethre-Chotzen syndrome	Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some consideration...	BeFree	16526917	Detail
0.332	Pfeiffer syndrome	Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer...	BeFree	19066959	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) AND Crouzon syndrome	ClinVar	Detail
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) AND Jackson-Weiss syndrome	ClinVar	Detail
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) AND Pfeiffer syndrome	ClinVar	Detail
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) AND FGFR2-related craniosynostosis	ClinVar	Detail
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Using the published primers for PCR, a patient with Crouzon syndrome was found to be homozygous for ...	DisGeNET	Detail
Using the published primers for PCR, a patient with Crouzon syndrome was found to be homozygous for ...	DisGeNET	Detail
Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.	DisGeNET	Detail
Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial het...	DisGeNET	Detail
Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.	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: rs121918497 dbSNP
Genome: hg19
Position: chr10:123,279,566-123,279,566
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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