chr4:1807262:A>G Detail (hg38) (FGFR3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:1,808,989-1,808,989 View the variant detail on this assembly version. |
hg38 | chr4:1,807,262-1,807,262 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001163213.1:c.2427A>G | NP_001156685.1:p.Ter809Trpext*? |
NM_022965.3:c.2409A>G | NP_075254.1:p.Ter803Trpext*? | |
NM_000142.4:c.2421A>G | NP_000133.1:p.Ter807Trpext*? |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
![]() ![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() ![]() |
2022-04-19 | criteria provided, multiple submitters, no conflicts | Thanatophoric dysplasia type 1 |
![]() ![]() |
Detail |
![]() |
2023-11-17 | criteria provided, multiple submitters, no conflicts | not provided |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.457 | THANATOPHORIC DYSPLASIA, TYPE I (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp) AND Thanatophoric dysplasia type 1 | ClinVar | Detail |
NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp) 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
- rs121913103 dbSNP
- Genome
- hg38
- Position
- chr4:1,807,262-1,807,262
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser