chr3:14165587:T>G Detail (hg38) (XPC)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:14,207,087-14,207,087 View the variant detail on this assembly version. |
| hg38 | chr3:14,165,587-14,165,587 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004628.4:c.622-2A>C | |
| Ensemble | ENST00000285021.12:c.622-2A>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2023-04-26 | criteria provided, multiple submitters, no conflicts | Xeroderma pigmentosum, group C |
germline
unknown
|
Detail |
|
Pathogenic
|
2020-01-10 | criteria provided, single submitter | xeroderma pigmentosum |
germline
|
Detail |
|
Pathogenic
|
2023-10-22 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.569 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004628.5(XPC):c.622-2A>C AND Xeroderma pigmentosum, group C | ClinVar | Detail |
| NM_004628.5(XPC):c.622-2A>C AND Xeroderma pigmentosum | ClinVar | Detail |
| NM_004628.5(XPC):c.622-2A>C AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs201940931 dbSNP
- Genome
- hg38
- Position
- chr3:14,165,587-14,165,587
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
Genome browser