chr4:1801886:C>T Detail (hg38) (FGFR3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:1,803,613-1,803,613 View the variant detail on this assembly version. |
| hg38 | chr4:1,801,886-1,801,886 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001163213.1:c.791C>T | NP_001156685.1:p.Thr264Met |
| NM_022965.3:c.779C>T | NP_075254.1:p.Thr260Met | |
| NM_000142.4:c.791C>T | NP_000133.1:p.Thr264Met |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2023-12-09 | 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.791C>T (p.Thr264Met) 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
- rs587778773 dbSNP
- Genome
- hg38
- Position
- chr4:1,801,886-1,801,886
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser