chr2:188999354:GCTGGT>ACTGG Detail (hg38) (COL3A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:189,864,080-189,864,085 View the variant detail on this assembly version. |
| hg38 | chr2:188,999,354-188,999,359 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000090.3:c.2092_2097delinsACTGG | NP_000081.1:p.Ala698ThrfsTer93 |
| Ensemble | ENST00000304636.9:c.2092_2097delinsACTGG | ENST00000304636.9:p.Ala698ThrfsTer93 |
| ENST00000450867.2:c.1993_1998delinsACTGG | ENST00000450867.2:p.Ala665ThrfsTer93 |
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
|
2023-10-10 | criteria provided, single submitter | COL3A1-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000090.4(COL3A1):c.2092_2097delinsACTGG (p.Ala698fs) AND COL3A1-related disorder | ClinVar | 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
- -
- Genome
- hg38
- Position
- chr2:188,999,354-188,999,359
- Variant Type
- snv
- Reference Allele
- GCTGGT
- Alternative Allele
- ACTGG
Genome browser