chr19:45352511:C>T Detail (hg38) (ERCC2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:45,855,769-45,855,769 View the variant detail on this assembly version. |
| hg38 | chr19:45,352,511-45,352,511 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000400.3:c.2041G>A | NP_000391.1:p.Asp681Asn |
| Ensemble | ENST00000391944.8:c.2041G>A | ENST00000391944.8:p.Asp681Asn |
| ENST00000391945.10:c.2041G>A | ENST00000391945.10:p.Asp681Asn |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| 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
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2023-10-30 | criteria provided, single submitter | cerebrooculofacioskeletal syndrome 2 |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-09-25 | criteria provided, single submitter | not provided |
germline
|
Detail |
Uncertain significance
|
2023-12-13 | criteria provided, single submitter | not specified |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | cerebrooculofacioskeletal syndrome 2 | NA | CLINVAR | Detail | |
| 0.241 | cerebrooculofacioskeletal syndrome 1 | Here we report the first involvement of the XPD gene in a new case of UV-sensiti... | BeFree | 11443545 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn) AND Cerebrooculofacioskeletal syndrome 2 | ClinVar | Detail |
| NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn) AND not provided | ClinVar | Detail |
| NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn) AND not specified | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Here we report the first involvement of the XPD gene in a new case of UV-sensitive COFS syndrome, wi... | 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
- rs121913023 dbSNP
- Genome
- hg38
- Position
- chr19:45,352,511-45,352,511
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser