chr4:1807371:C>A Detail (hg19) (FGFR3)

Information

Genome

Assembly Position
hg19 chr4:1,807,371-1,807,371
hg38 chr4:1,805,644-1,805,644 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001163213.1:c.1626C>A NP_001156685.1:p.Asn542Lys
NM_022965.3:c.1608C>A NP_075254.1:p.Asn536Lys
NM_000142.4:c.1620C>A NP_000133.1:p.Asn540Lys
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic Hypochondroplasia germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-22 criteria provided, multiple submitters, no conflicts hypochondroplasia de novo germline unknown Detail
Pathogenic 2009-06-01 no assertion criteria provided Thanatophoric dysplasia type 1 germline Detail
Pathogenic 2024-01-22 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-07-01 criteria provided, multiple submitters, no conflicts achondroplasia de novo germline Detail
Pathogenic criteria provided, single submitter de novo Detail
Pathogenic 2023-11-09 criteria provided, single submitter FGFR3-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.457 THANATOPHORIC DYSPLASIA, TYPE I (disorder) NA CLINVAR Detail
0.495 Hypochondroplasia (disorder) NA CLINVAR Detail
0.457 THANATOPHORIC DYSPLASIA, TYPE I (disorder) Here, we report a unique patient with thanatophoric dysplasia and a double de no... BeFree 19449430 Detail
0.150 thanatophoric dysplasia Here, we report a unique patient with thanatophoric dysplasia and a double de no... BeFree 19449430 Detail
0.621 achondroplasia The mother has achondroplasia and carries the common G1138 (G380R) mutation in t... BeFree 10360393 Detail
0.621 achondroplasia The father has achondroplasia due to the common G1138A (G380R) mutation in the f... BeFree 10360392 Detail
0.495 Hypochondroplasia (disorder) The father has achondroplasia due to the common G1138A (G380R) mutation in the f... BeFree 10360392 Detail
0.495 Hypochondroplasia (disorder) To determine whether the genotype could be distinguished on the basis of the phe... BeFree 9853502 Detail
0.495 Hypochondroplasia (disorder) This assay, which is performed on the LightCycler thermocycler, enables the rapi... BeFree 15345118 Detail
0.621 achondroplasia To determine whether the genotype could be distinguished on the basis of the phe... BeFree 9853502 Detail
0.495 Hypochondroplasia (disorder) Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypoc... BeFree 11071087 Detail
0.495 Hypochondroplasia (disorder) A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormo... BeFree 22137367 Detail
0.495 Hypochondroplasia (disorder) Other mutations within the FGFR3 tyrosine kinase domain (e.g., C1620A or C1620G ... BeFree 11055896 Detail
0.001 growth hormone treatment A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormo... BeFree 22137367 Detail
0.495 Hypochondroplasia (disorder) Genetic analysis revealed two germline mutations, a seven base-pair deletion in ... BeFree 16020314 Detail
0.495 Hypochondroplasia (disorder) Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. BeFree 23149434 Detail
0.495 Hypochondroplasia (disorder) Our patient demonstrated one of the common FGFR3 mutations identified in hypocho... BeFree 9842995 Detail
0.495 Hypochondroplasia (disorder) A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor r... UNIPROT 7670477 Detail
0.495 Hypochondroplasia (disorder) Although most cases of hypochondroplasia were accounted for by a recurrent misse... BeFree 9055906 Detail
<0.001 Hypochondroplasia (disorder) A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormo... BeFree 22137367 Detail
<0.001 growth hormone treatment A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormo... BeFree 22137367 Detail
0.495 Hypochondroplasia (disorder) Neuroimaging and neurological findings in patients with hypochondroplasia and FG... BeFree 23165795 Detail
0.495 Hypochondroplasia (disorder) Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syn... BeFree 21225389 Detail
0.495 Hypochondroplasia (disorder) We screened 65 children with Hch diagnosed by clinical and radiologic criteria f... BeFree 9672519 Detail
<0.001 Down syndrome Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syn... BeFree 21225389 Detail
0.495 Hypochondroplasia (disorder) Molecular genetic analysis carried out retrospectively revealed that both fetuse... BeFree 16575888 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) AND Hypochondroplasia ClinVar Detail
NM_000142.4(FGFR3):c.[1454A>G;1620C>A] AND Thanatophoric dysplasia type 1 ClinVar Detail
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) AND not provided ClinVar Detail
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) AND Achondroplasia ClinVar Detail
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) AND Neurodevelopmental delay ClinVar Detail
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) AND FGFR3-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Here, we report a unique patient with thanatophoric dysplasia and a double de novo FGFR3 mutation, l... DisGeNET Detail
Here, we report a unique patient with thanatophoric dysplasia and a double de novo FGFR3 mutation, l... DisGeNET Detail
The mother has achondroplasia and carries the common G1138 (G380R) mutation in the FGFR3 gene; the f... DisGeNET Detail
The father has achondroplasia due to the common G1138A (G380R) mutation in the fibroblast growth fac... DisGeNET Detail
The father has achondroplasia due to the common G1138A (G380R) mutation in the fibroblast growth fac... DisGeNET Detail
To determine whether the genotype could be distinguished on the basis of the phenotype, we analysed ... DisGeNET Detail
This assay, which is performed on the LightCycler thermocycler, enables the rapid and reliable detec... DisGeNET Detail
To determine whether the genotype could be distinguished on the basis of the phenotype, we analysed ... DisGeNET Detail
Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia. DisGeNET Detail
A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in youn... DisGeNET Detail
Other mutations within the FGFR3 tyrosine kinase domain (e.g., C1620A or C1620G [both resulting in A... DisGeNET Detail
A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in youn... DisGeNET Detail
Genetic analysis revealed two germline mutations, a seven base-pair deletion in exon 12 (G70313-7031... DisGeNET Detail
Hypochondroplasia in a child with 1620C&gt;G (Asn540Lys) mutation in FGFR3. DisGeNET Detail
Our patient demonstrated one of the common FGFR3 mutations identified in hypochondroplasia, a C-to-A... DisGeNET Detail
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hyp... DisGeNET Detail
Although most cases of hypochondroplasia were accounted for by a recurrent missense substitution (As... DisGeNET Detail
A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in youn... DisGeNET Detail
A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in youn... DisGeNET Detail
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. DisGeNET Detail
Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same pa... DisGeNET Detail
We screened 65 children with Hch diagnosed by clinical and radiologic criteria for 2 previously desc... DisGeNET Detail
Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same pa... DisGeNET Detail
Molecular genetic analysis carried out retrospectively revealed that both fetuses were heterozygous ... 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
rs28933068 dbSNP
Genome
hg19
Position
chr4:1,807,371-1,807,371
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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