chr4:1801122:C>T Detail (hg19) (FGFR3)

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

Genome

Assembly	Position
hg19	chr4:1,801,122-1,801,122
hg38	chr4:1,799,395-1,799,395 View the variant detail on this assembly version.

HGVS

FGFR3

Type	Transcript	Protein
RefSeq	NM_000142.4:c.251C>T	NP_000133.1:p.Ser84Leu
	NM_022965.3:c.251C>T	NP_075254.1:p.Ser84Leu
	NM_001163213.1:c.251C>T	NP_001156685.1:p.Ser84Leu
Ensemble	ENST00000352904.6:c.251C>T	ENST00000352904.6:p.Ser84Leu
	ENST00000440486.8:c.251C>T	ENST00000440486.8:p.Ser84Leu
	ENST00000412135.7:c.251C>T	ENST00000412135.7:p.Ser84Leu
	ENST00000340107.9:c.251C>T	ENST00000340107.9:p.Ser84Leu
	ENST00000481110.7:c.251C>T	ENST00000481110.7:p.Ser84Leu

Summary

MGeND

Clinical significance	not provided
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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Links

FGFR3

Type	Database	ID	Link
Gene	MIM	134934	OMIM
	HGNC	3690	HGNC
	Ensembl	ENSG00000068078	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		descending colon	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided		malignant neoplasm of rectosigmoid junction	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2006-12-01	no assertion criteria provided	hypochondroplasia	germline	Detail
Pathogenic	2017-12-31	criteria provided, single submitter	Muenke Syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,achondroplasia,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome	germline	Detail
Pathogenic	2017-12-31	criteria provided, single submitter	Muenke Syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,achondroplasia,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome	germline	Detail
Pathogenic	2017-12-31	criteria provided, single submitter	Muenke Syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,achondroplasia,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome	germline	Detail
Pathogenic	2017-12-31	criteria provided, single submitter	Muenke Syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,achondroplasia,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome	germline	Detail
Pathogenic	2017-12-31	criteria provided, single submitter	Muenke Syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,achondroplasia,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome	germline	Detail
Pathogenic	2017-12-31	criteria provided, single submitter	Muenke Syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,achondroplasia,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome	germline	Detail
Pathogenic	2017-12-31	criteria provided, single submitter	Muenke Syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,achondroplasia,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome	germline	Detail
Pathogenic	2017-12-31	criteria provided, single submitter	Muenke Syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,achondroplasia,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome	germline	Detail
Pathogenic	2017-12-31	criteria provided, single submitter	Muenke Syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,achondroplasia,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Levy-Hollister syndrome	germline	Detail
Pathogenic	2022-05-04	criteria provided, multiple submitters, no conflicts	achondroplasia	germline paternal	Detail
Likely pathogenic	2023-10-22	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.495	Hypochondroplasia (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) AND Hypochondroplasia	ClinVar	Detail
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) AND multiple conditions	ClinVar	Detail
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) AND multiple conditions	ClinVar	Detail
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) AND multiple conditions	ClinVar	Detail
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) AND multiple conditions	ClinVar	Detail
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) AND multiple conditions	ClinVar	Detail
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) AND multiple conditions	ClinVar	Detail
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) AND multiple conditions	ClinVar	Detail
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) AND multiple conditions	ClinVar	Detail
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) AND multiple conditions	ClinVar	Detail
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) AND Achondroplasia	ClinVar	Detail
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) AND not provided	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: rs121913116 dbSNP
Genome: hg19
Position: chr4:1,801,122-1,801,122
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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