chr4:1803623:G>T Detail (hg19) (FGFR3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:1,803,623-1,803,623 |
hg38 | chr4:1,801,896-1,801,896 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001163213.1:c.801G>T | NP_001156685.1:p.Leu267= |
NM_022965.3:c.789G>T | NP_075254.1:p.Leu263= | |
NM_000142.4:c.801G>T | NP_000133.1:p.Leu267= |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.495 | Hypochondroplasia (disorder) | NA | CLINVAR | Detail |
Annotation
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
- rs587778811 dbSNP
- Genome
- hg19
- Position
- chr4:1,803,623-1,803,623
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser