chr4:1806089:G>T Detail (hg19) (FGFR3)

Information

Genome

Assembly Position
hg19 chr4:1,806,089-1,806,089
hg38 chr4:1,804,362-1,804,362 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001163213.1:c.1114G>T NP_001156685.1:p.Gly372Cys
NM_022965.3:c.1096G>T NP_075254.1:p.Gly366Cys
NM_000142.4:c.1108G>T NP_000133.1:p.Gly370Cys
Summary

MGeND

Clinical significance not provided
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 COSM1666837 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided pyloric antrum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-12-05 criteria provided, multiple submitters, no conflicts Thanatophoric dysplasia type 1 de novo germline unknown Detail
Pathogenic 2006-08-01 no assertion criteria provided epidermal nevus somatic Detail
Pathogenic 2022-05-03 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Urinary bladder carcinoma somatic Detail
Pathogenic 2024-01-10 no assertion criteria provided thanatophoric dysplasia germline Detail
Pathogenic 2024-03-25 criteria provided, single submitter achondroplasia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.457 THANATOPHORIC DYSPLASIA, TYPE I (disorder) NA CLINVAR Detail
0.275 Malignant neoplasm of urinary bladder Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372... BeFree 21264819 Detail
0.150 thanatophoric dysplasia When the results of the FGFR3 thanatophoric dysplasia mutations located in exon ... BeFree 21264819 Detail
0.019 Carcinoma of bladder Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372... BeFree 21264819 Detail
0.457 THANATOPHORIC DYSPLASIA, TYPE I (disorder) When the results of the FGFR3 thanatophoric dysplasia mutations located in exon ... BeFree 21264819 Detail
0.362 NEVUS, EPIDERMAL (disorder) NA CLINVAR Detail
0.457 THANATOPHORIC DYSPLASIA, TYPE I (disorder) G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dyspla... BeFree 9790257 Detail
0.621 achondroplasia Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondr... BeFree 10587515 Detail
0.150 thanatophoric dysplasia G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dyspla... BeFree 9790257 Detail
0.009 Dwarfism Here we show that a glycine-to-cysteine substitution at position 375 (Gly375Cys)... BeFree 10587515 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) AND Thanatophoric dysplasia type 1 ClinVar Detail
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) AND Epidermal nevus ClinVar Detail
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) AND not provided ClinVar Detail
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) AND Urinary bladder carcinoma ClinVar Detail
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) AND Thanatophoric dysplasia ClinVar Detail
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) AND Achondroplasia ClinVar Detail
NA DisGeNET Detail
Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372C, and T375C mutatio... DisGeNET Detail
When the results of the FGFR3 thanatophoric dysplasia mutations located in exon 7, A248C and S249C a... DisGeNET Detail
Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372C, and T375C mutatio... DisGeNET Detail
When the results of the FGFR3 thanatophoric dysplasia mutations located in exon 7, A248C and S249C a... DisGeNET Detail
NA DisGeNET Detail
G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia. DisGeNET Detail
Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteoge... DisGeNET Detail
G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia. DisGeNET Detail
Here we show that a glycine-to-cysteine substitution at position 375 (Gly375Cys) in human FGFR3 caus... 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
rs121913479 dbSNP
Genome
hg19
Position
chr4:1,806,089-1,806,089
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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