chr4:1804362:G>T Detail (hg38) (FGFR3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:1,806,089-1,806,089 View the variant detail on this assembly version. |
hg38 | chr4:1,804,362-1,804,362 |
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 | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-12-05 | criteria provided, multiple submitters, no conflicts | Thanatophoric dysplasia type 1 |
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Detail |
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2006-08-01 | no assertion criteria provided | epidermal nevus |
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Detail |
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2022-05-03 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2015-07-14 | no assertion criteria provided | Urinary bladder carcinoma |
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Detail |
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2024-01-10 | no assertion criteria provided | thanatophoric dysplasia |
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Detail |
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2024-03-25 | criteria provided, single submitter | achondroplasia |
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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
Descrption | Source | Links |
---|---|---|
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 |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs121913479 dbSNP
- Genome
- hg38
- Position
- chr4:1,804,362-1,804,362
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
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