chrX:107821354:G>A Detail (hg19) (COL4A5)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:107,821,354-107,821,354 |
| hg38 | chrX:108,578,124-108,578,124 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000495.4:c.687+5G>A | |
| NM_033380.2:c.687+5G>A | ||
| Ensemble | ENST00000361603.7:c.687+5G>A |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Conflicting interpretations of pathogenicity
|
2023-08-30 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
Uncertain significance
|
2017-09-29 | no assertion criteria provided | X-linked Alport syndrome |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_033380.3(COL4A5):c.687+5G>A AND not provided | ClinVar | Detail |
| NM_033380.3(COL4A5):c.687+5G>A AND X-linked Alport syndrome | ClinVar | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1556405930 dbSNP
- Genome
- hg19
- Position
- chrX:107,821,354-107,821,354
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser