chr4:1803744:A>T Detail (hg38) (FGFR3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:1,805,471-1,805,471 View the variant detail on this assembly version. |
hg38 | chr4:1,803,744-1,803,744 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001163213.1:c.1082-586A>T | |
NM_022965.3:c.971A>T | NP_075254.1:p.Asn324Ile | |
NM_000142.4:c.983A>T | NP_000133.1:p.Asn328Ile |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2019-11-30 | criteria provided, single submitter | not provided |
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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.983A>T (p.Asn328Ile) 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
- rs587778817 dbSNP
- Genome
- hg38
- Position
- chr4:1,803,744-1,803,744
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
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