chr4:1804426:C>A Detail (hg38) (FGFR3)

Information

Genome

Assembly Position
hg19 chr4:1,806,153-1,806,153 View the variant detail on this assembly version.
hg38 chr4:1,804,426-1,804,426

HGVS

Type Transcript Protein
RefSeq NM_001163213.1:c.1178C>A NP_001156685.1:p.Ala393Glu
NM_022965.3:c.1160C>A NP_075254.1:p.Ala387Glu
NM_000142.4:c.1172C>A NP_000133.1:p.Ala391Glu
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
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 COSM5945996 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-07-10 criteria provided, multiple submitters, no conflicts Crouzon syndrome-acanthosis nigricans syndrome de novo germline Detail
Pathogenic 2015-07-27 criteria provided, single submitter Craniosynostosis syndrome germline Detail
Pathogenic 2023-09-24 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2016-05-13 no assertion criteria provided carcinoma somatic Detail
Pathogenic 2016-04-18 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.483 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) The associated of FGFR3 mutations with craniosynostosis has been restricted to t... BeFree 22038757 Detail
0.621 achondroplasia Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome... BeFree 11426459 Detail
0.483 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) NA CLINVAR Detail
0.564 Muenke Syndrome The associated of FGFR3 mutations with craniosynostosis has been restricted to t... BeFree 22038757 Detail
0.014 acanthosis nigricans Bilateral basilar venous atresia is most common in patients with the FGFR3 ala39... BeFree 11039354 Detail
0.014 acanthosis nigricans A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Cro... BeFree 8880573 Detail
<0.001 Rhabdoid Tumor of the Kidney Multiple consequences of a single amino acid pathogenic RTK mutation: the A391E ... BeFree 23437153 Detail
0.483 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome... BeFree 11426459 Detail
0.001 Craniofacial Dysostosis A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Cro... BeFree 8880573 Detail
0.483 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) The molecular abnormality associated with Crouzon syndrome with acanthosis nigri... UNIPROT 17935505 Detail
0.483 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) The A391E mutation in fibroblast growth factor receptor 3 (FGFR3) is the genetic... BeFree 23437153 Detail
0.014 acanthosis nigricans All three patients with the crouzonoid phenotype and acanthosis nigricans had th... BeFree 10541159 Detail
0.001 Craniofacial dysostosis type 1 A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Cro... BeFree 8880573 Detail
<0.001 Atresia Bilateral basilar venous atresia is most common in patients with the FGFR3 ala39... BeFree 11039354 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) AND Crouzon syndrome-acanthosis nigricans syndrome ClinVar Detail
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) AND Craniosynostosis syndrome ClinVar Detail
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) AND not provided ClinVar Detail
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) AND Carcinoma ClinVar Detail
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) AND Inborn genetic diseases ClinVar Detail
The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the ... DisGeNET Detail
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nig... DisGeNET Detail
NA DisGeNET Detail
The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the ... DisGeNET Detail
Bilateral basilar venous atresia is most common in patients with the FGFR3 ala391glu mutation and cr... DisGeNET Detail
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and ac... DisGeNET Detail
Multiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3. DisGeNET Detail
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nig... DisGeNET Detail
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and ac... DisGeNET Detail
The molecular abnormality associated with Crouzon syndrome with acanthosis nigricans (CAN) is a tran... DisGeNET Detail
The A391E mutation in fibroblast growth factor receptor 3 (FGFR3) is the genetic cause for Crouzon s... DisGeNET Detail
All three patients with the crouzonoid phenotype and acanthosis nigricans had the same mutation in e... DisGeNET Detail
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and ac... DisGeNET Detail
Bilateral basilar venous atresia is most common in patients with the FGFR3 ala391glu mutation and cr... 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
rs28931615 dbSNP
Genome
hg38
Position
chr4:1,804,426-1,804,426
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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