chr10:121517342:G>C 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	chr10:123,276,856-123,276,856 View the variant detail on this assembly version.
hg38	chr10:121,517,342-121,517,342

HGVS

FGFR2

Type	Transcript	Protein
RefSeq	NM_001144916.1:c.716C>G	NP_001138388.1:p.Ser239Cys
	NM_001144918.1:c.716C>G	NP_001138390.1:p.Ser239Cys
	NM_001144915.1:c.794C>G	NP_001138387.1:p.Ser265Cys
	NM_000141.4:c.1061C>G	NP_000132.3:p.Ser354Cys
	NM_001144919.1:c.820+1340C>G
	NM_001144913.1:c.1087+1340C>G
	NM_001144917.1:c.939+2637C>G
	NM_001144914.1:c.749-2023C>G
	NM_022970.3:c.1087+1340C>G
	NM_001320654.1:c.377C>G	NP_001307583.1:p.Ser126Cys
	NM_001320658.1:c.794C>G	NP_001307587.1:p.Ser265Cys
	NM_023029.2:c.794C>G	NP_075418.1:p.Ser265Cys
Ensemble	ENST00000346997.6:c.1061C>G	ENST00000346997.6:p.Ser354Cys
	ENST00000351936.11:c.1061C>G	ENST00000351936.11:p.Ser354Cys
	ENST00000356226.8:c.716C>G	ENST00000356226.8:p.Ser239Cys
	ENST00000357555.9:c.794C>G	ENST00000357555.9:p.Ser265Cys
	ENST00000358487.10:c.1061C>G	ENST00000358487.10:p.Ser354Cys
	ENST00000360144.7:c.820+1340C>G
	ENST00000369056.5:c.1087+1340C>G
	ENST00000369059.5:c.742+1340C>G
	ENST00000369060.8:c.939+2637C>G
	ENST00000369061.8:c.749-2023C>G
	ENST00000457416.7:c.1087+1340C>G
	ENST00000478859.5:c.377C>G	ENST00000478859.5:p.Ser126Cys
	ENST00000613048.4:c.794C>G	ENST00000613048.4:p.Ser265Cys
	ENST00000638709.2:c.-110C>G
	ENST00000682550.1:c.716C>G	ENST00000682550.1:p.Ser239Cys
	ENST00000682772.1:c.-110C>G
	ENST00000683211.1:c.1061C>G	ENST00000683211.1:p.Ser354Cys
	ENST00000684153.1:c.716C>G	ENST00000684153.1:p.Ser239Cys

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	2022-06-03	criteria provided, multiple submitters, no conflicts	Crouzon syndrome	germline	Detail
Pathogenic	2017-08-24	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2023-06-28	criteria provided, single submitter	FGFR2-related craniosynostosis	germline	Detail
Pathogenic	2022-06-08	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2021-12-08	criteria provided, single submitter		unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.255	Craniofacial Dysostosis	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000141.5(FGFR2):c.1061C>G (p.Ser354Cys) AND Crouzon syndrome	ClinVar	Detail
NM_000141.5(FGFR2):c.1061C>G (p.Ser354Cys) AND Inborn genetic diseases	ClinVar	Detail
NM_000141.5(FGFR2):c.1061C>G (p.Ser354Cys) AND FGFR2-related craniosynostosis	ClinVar	Detail
NM_000141.5(FGFR2):c.1061C>G (p.Ser354Cys) AND not provided	ClinVar	Detail
NM_000141.5(FGFR2):c.1061C>G (p.Ser354Cys) AND See cases	ClinVar	Detail
NA	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: rs121918490 dbSNP
Genome: hg38
Position: chr10:121,517,342-121,517,342
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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