chr10:121517382:T>G Detail (hg38) (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	chr10:123,276,896-123,276,896 View the variant detail on this assembly version.
hg38	chr10:121,517,382-121,517,382

HGVS

FGFR2

Type	Transcript	Protein
RefSeq	NM_001144916.1:c.676A>C	NP_001138388.1:p.Thr226Pro
	NM_001144918.1:c.676A>C	NP_001138390.1:p.Thr226Pro
	NM_001144915.1:c.754A>C	NP_001138387.1:p.Thr252Pro
	NM_000141.4:c.1021A>C	NP_000132.3:p.Thr341Pro
	NM_001144919.1:c.820+1300A>C
	NM_001144913.1:c.1087+1300A>C
	NM_001144917.1:c.939+2597A>C
	NM_001144914.1:c.749-2063A>C
	NM_022970.3:c.1087+1300A>C
	NM_001320654.1:c.337A>C	NP_001307583.1:p.Thr113Pro
	NM_001320658.1:c.754A>C	NP_001307587.1:p.Thr252Pro
	NM_023029.2:c.754A>C	NP_075418.1:p.Thr252Pro
Ensemble	ENST00000346997.6:c.1021A>C	ENST00000346997.6:p.Thr341Pro
	ENST00000351936.11:c.1021A>C	ENST00000351936.11:p.Thr341Pro
	ENST00000356226.8:c.676A>C	ENST00000356226.8:p.Thr226Pro
	ENST00000357555.9:c.754A>C	ENST00000357555.9:p.Thr252Pro
	ENST00000358487.10:c.1021A>C	ENST00000358487.10:p.Thr341Pro
	ENST00000360144.7:c.820+1300A>C
	ENST00000369056.5:c.1087+1300A>C
	ENST00000369059.5:c.742+1300A>C
	ENST00000369060.8:c.939+2597A>C
	ENST00000369061.8:c.749-2063A>C
	ENST00000457416.7:c.1087+1300A>C
	ENST00000478859.5:c.337A>C	ENST00000478859.5:p.Thr113Pro
	ENST00000613048.4:c.754A>C	ENST00000613048.4:p.Thr252Pro
	ENST00000638709.2:c.-150A>C
	ENST00000682550.1:c.676A>C	ENST00000682550.1:p.Thr226Pro
	ENST00000682772.1:c.-150A>C
	ENST00000683211.1:c.1021A>C	ENST00000683211.1:p.Thr341Pro
	ENST00000684153.1:c.676A>C	ENST00000684153.1:p.Thr226Pro

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

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	2016-09-17	criteria provided, multiple submitters, no conflicts	Pfeiffer syndrome	germline	Detail
Pathogenic	2023-10-03	criteria provided, single submitter	FGFR2-related craniosynostosis	germline	Detail
Pathogenic	2023-03-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.621	achondroplasia	Gene analysis of these patients showed a T341P mutation in the FGFR2 gene in the...	BeFree	9780920	Detail
0.010	ACROCEPHALOPOLYSYNDACTYLY TYPE IV	Gene analysis of these patients showed a T341P mutation in the FGFR2 gene in the...	BeFree	9780920	Detail
0.332	Pfeiffer syndrome	Gene analysis of these patients showed a T341P mutation in the FGFR2 gene in the...	BeFree	9780920	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000141.5(FGFR2):c.1021A>C (p.Thr341Pro) AND Pfeiffer syndrome	ClinVar	Detail
NM_000141.5(FGFR2):c.1021A>C (p.Thr341Pro) AND FGFR2-related craniosynostosis	ClinVar	Detail
NM_000141.5(FGFR2):c.1021A>C (p.Thr341Pro) AND not provided	ClinVar	Detail
Gene analysis of these patients showed a T341P mutation in the FGFR2 gene in the patient with Pfeiff...	DisGeNET	Detail
Gene analysis of these patients showed a T341P mutation in the FGFR2 gene in the patient with Pfeiff...	DisGeNET	Detail
Gene analysis of these patients showed a T341P mutation in the FGFR2 gene in the patient with Pfeiff...	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: rs121918495 dbSNP
Genome: hg38
Position: chr10:121,517,382-121,517,382
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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