chr8:38424690:G>C Detail (hg38) (FGFR1)

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

Genome

Assembly	Position
hg19	chr8:38,282,208-38,282,208 View the variant detail on this assembly version.
hg38	chr8:38,424,690-38,424,690

HGVS

FGFR1

Type	Transcript	Protein
RefSeq	NM_023106.2:c.482C>G	NP_075594.1:p.Pro161Arg
	NM_001174064.1:c.731C>G	NP_001167535.1:p.Pro244Arg
	NM_023105.2:c.488C>G	NP_075593.1:p.Pro163Arg
	NM_001174065.1:c.749C>G	NP_001167536.1:p.Pro250Arg
	NM_001174066.1:c.749C>G	NP_001167537.1:p.Pro250Arg
	NM_001174067.1:c.749C>G	NP_001167538.1:p.Pro250Arg
	NM_015850.3:c.755C>G	NP_056934.2:p.Pro252Arg
	NM_023110.2:c.755C>G	NP_075598.2:p.Pro252Arg
	NM_001174063.1:c.755C>G	NP_001167534.1:p.Pro252Arg
Ensemble	ENST00000326324.10:c.482C>G	ENST00000326324.10:p.Pro161Arg
	ENST00000335922.9:c.731C>G	ENST00000335922.9:p.Pro244Arg
	ENST00000341462.9:c.749C>G	ENST00000341462.9:p.Pro250Arg
	ENST00000356207.9:c.488C>G	ENST00000356207.9:p.Pro163Arg
	ENST00000397091.9:c.749C>G	ENST00000397091.9:p.Pro250Arg
	ENST00000397103.5:c.482C>G	ENST00000397103.5:p.Pro161Arg
	ENST00000397108.8:c.749C>G	ENST00000397108.8:p.Pro250Arg
	ENST00000397113.6:c.749C>G	ENST00000397113.6:p.Pro250Arg
	ENST00000425967.8:c.749C>G	ENST00000425967.8:p.Pro250Arg
	ENST00000447712.7:c.755C>G	ENST00000447712.7:p.Pro252Arg
	ENST00000532791.5:c.755C>G	ENST00000532791.5:p.Pro252Arg
	ENST00000683765.1:c.749C>G	ENST00000683765.1:p.Pro250Arg
	ENST00000683815.1:c.749C>G	ENST00000683815.1:p.Pro250Arg
	ENST00000684654.1:c.482C>G	ENST00000684654.1:p.Pro161Arg
	ENST00000703405.1:c.749C>G	ENST00000703405.1:p.Pro250Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

FGFR1

Type	Database	ID	Link
Gene	MIM	136350	OMIM
	HGNC	3688	HGNC
	Ensembl	ENSG00000077782	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	2021-08-27	criteria provided, multiple submitters, no conflicts	Pfeiffer syndrome	germline maternal	Detail
Pathogenic	2022-02-02	criteria provided, single submitter	Jackson-Weiss syndrome	germline	Detail
Pathogenic	2023-03-01	criteria provided, single submitter	Pfeiffer syndrome,hypogonadotropic hypogonadism 2 with or without anosmia	germline	Detail
Pathogenic	2023-03-01	criteria provided, single submitter	Pfeiffer syndrome,hypogonadotropic hypogonadism 2 with or without anosmia	germline	Detail
Pathogenic	2022-03-08	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2021-07-17	criteria provided, single submitter	Hartsfield-Bixler-Demyer syndrome,Jackson-Weiss syndrome,hypogonadotropic hypogonadism 2 with or without anosmia,osteoglophonic dysplasia,Pfeiffer syndrome,Trigonocephaly 1,Encephalocraniocutaneous lipomatosis	unknown	Detail
Pathogenic	2021-07-17	criteria provided, single submitter	Hartsfield-Bixler-Demyer syndrome,Jackson-Weiss syndrome,hypogonadotropic hypogonadism 2 with or without anosmia,osteoglophonic dysplasia,Pfeiffer syndrome,Trigonocephaly 1,Encephalocraniocutaneous lipomatosis	unknown	Detail
Pathogenic	2021-07-17	criteria provided, single submitter	Hartsfield-Bixler-Demyer syndrome,Jackson-Weiss syndrome,hypogonadotropic hypogonadism 2 with or without anosmia,osteoglophonic dysplasia,Pfeiffer syndrome,Trigonocephaly 1,Encephalocraniocutaneous lipomatosis	unknown	Detail
Pathogenic	2021-07-17	criteria provided, single submitter	Hartsfield-Bixler-Demyer syndrome,Jackson-Weiss syndrome,hypogonadotropic hypogonadism 2 with or without anosmia,osteoglophonic dysplasia,Pfeiffer syndrome,Trigonocephaly 1,Encephalocraniocutaneous lipomatosis	unknown	Detail
Pathogenic	2021-07-17	criteria provided, single submitter	Hartsfield-Bixler-Demyer syndrome,Jackson-Weiss syndrome,hypogonadotropic hypogonadism 2 with or without anosmia,osteoglophonic dysplasia,Pfeiffer syndrome,Trigonocephaly 1,Encephalocraniocutaneous lipomatosis	unknown	Detail
Pathogenic	2021-07-17	criteria provided, single submitter	Hartsfield-Bixler-Demyer syndrome,Jackson-Weiss syndrome,hypogonadotropic hypogonadism 2 with or without anosmia,osteoglophonic dysplasia,Pfeiffer syndrome,Trigonocephaly 1,Encephalocraniocutaneous lipomatosis	unknown	Detail
Pathogenic	2021-07-17	criteria provided, single submitter	Hartsfield-Bixler-Demyer syndrome,Jackson-Weiss syndrome,hypogonadotropic hypogonadism 2 with or without anosmia,osteoglophonic dysplasia,Pfeiffer syndrome,Trigonocephaly 1,Encephalocraniocutaneous lipomatosis	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.204	Pfeiffer syndrome	These studies provide direct genetic evidence that the Pro252Arg mutation in FGF...	BeFree	10942429	Detail
0.240	Jackson-Weiss syndrome	NA	CLINVAR		Detail
0.030	craniosynostosis	Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both...	BeFree	11277076	Detail
0.004	ACROCEPHALOPOLYSYNDACTYLY TYPE IV	We report four new affected families showing an FGFR1 P252R mutation and emphasi...	BeFree	14564217	Detail
0.204	Pfeiffer syndrome	Molecular analysis of her fibroblast growth factor receptor 1 gene (FGFR1) ident...	BeFree	10861678	Detail
<0.001	Apert syndrome	In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGF...	BeFree	11596961	Detail
0.001	Apert syndrome	In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGF...	BeFree	11596961	Detail
0.204	Pfeiffer syndrome	Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mu...	BeFree	25251565	Detail
0.001	Pfeiffer syndrome	In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGF...	BeFree	11596961	Detail
0.004	ACROCEPHALOPOLYSYNDACTYLY TYPE IV	These studies provide direct genetic evidence that the Pro252Arg mutation in FGF...	BeFree	10942429	Detail
0.160	craniosynostosis	Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both...	BeFree	11277076	Detail
0.001	ACROCEPHALOPOLYSYNDACTYLY TYPE IV	In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGF...	BeFree	11596961	Detail
<0.001	Congenital Abnormality	We report four new affected families showing an FGFR1 P252R mutation and emphasi...	BeFree	14564217	Detail
0.014	craniosynostosis	Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both...	BeFree	11277076	Detail
0.004	ACROCEPHALOPOLYSYNDACTYLY TYPE IV	Molecular analysis of her fibroblast growth factor receptor 1 gene (FGFR1) ident...	BeFree	10861678	Detail
0.014	craniosynostosis	In addition, the p.P252R mutation in FGFR1 was detected in 1 PS patient with uni...	BeFree	23348274	Detail
0.204	Pfeiffer syndrome	In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGF...	BeFree	11596961	Detail
0.014	craniosynostosis	Pfeiffer syndrome is a classic form of craniosynostosis that is caused by a prol...	BeFree	10942429	Detail
0.004	ACROCEPHALOPOLYSYNDACTYLY TYPE IV	In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGF...	BeFree	11596961	Detail
0.004	ACROCEPHALOPOLYSYNDACTYLY TYPE IV	Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mu...	BeFree	25251565	Detail
0.204	Pfeiffer syndrome	We report four new affected families showing an FGFR1 P252R mutation and emphasi...	BeFree	14564217	Detail

Annotation

Annotations

Descrption	Source	Links
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) AND Pfeiffer syndrome	ClinVar	Detail
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) AND Jackson-Weiss syndrome	ClinVar	Detail
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) AND multiple conditions	ClinVar	Detail
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) AND multiple conditions	ClinVar	Detail
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) AND not provided	ClinVar	Detail
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) AND multiple conditions	ClinVar	Detail
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) AND multiple conditions	ClinVar	Detail
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) AND multiple conditions	ClinVar	Detail
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) AND multiple conditions	ClinVar	Detail
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) AND multiple conditions	ClinVar	Detail
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) AND multiple conditions	ClinVar	Detail
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) AND multiple conditions	ClinVar	Detail
These studies provide direct genetic evidence that the Pro252Arg mutation in FGFR1 causes human Pfei...	DisGeNET	Detail
NA	DisGeNET	Detail
Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, an...	DisGeNET	Detail
We report four new affected families showing an FGFR1 P252R mutation and emphasize the characteristi...	DisGeNET	Detail
Molecular analysis of her fibroblast growth factor receptor 1 gene (FGFR1) identified a heterozygous...	DisGeNET	Detail
In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is inv...	DisGeNET	Detail
In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is inv...	DisGeNET	Detail
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.	DisGeNET	Detail
In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is inv...	DisGeNET	Detail
These studies provide direct genetic evidence that the Pro252Arg mutation in FGFR1 causes human Pfei...	DisGeNET	Detail
Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, an...	DisGeNET	Detail
In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is inv...	DisGeNET	Detail
We report four new affected families showing an FGFR1 P252R mutation and emphasize the characteristi...	DisGeNET	Detail
Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, an...	DisGeNET	Detail
Molecular analysis of her fibroblast growth factor receptor 1 gene (FGFR1) identified a heterozygous...	DisGeNET	Detail
In addition, the p.P252R mutation in FGFR1 was detected in 1 PS patient with unilateral coronal cran...	DisGeNET	Detail
In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is inv...	DisGeNET	Detail
Pfeiffer syndrome is a classic form of craniosynostosis that is caused by a proline-->arginine su...	DisGeNET	Detail
In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is inv...	DisGeNET	Detail
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.	DisGeNET	Detail
We report four new affected families showing an FGFR1 P252R mutation and emphasize the characteristi...	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: rs121909627 dbSNP
Genome: hg38
Position: chr8:38,424,690-38,424,690
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8618
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 118810
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.4167999326656E-6

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