chr3:14199648:G>A Detail (hg19) (XPC)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:14,199,648-14,199,648 |
| hg38 | chr3:14,158,148-14,158,148 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004628.4:c.1735C>T | NP_004619.3:p.Arg579Ter |
| Ensemble | ENST00000285021.12:c.1735C>T | ENST00000285021.12:p.Arg579Ter |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:<0.001 |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-05-12 | criteria provided, multiple submitters, no conflicts | Xeroderma pigmentosum, group C |
germline
unknown
|
Detail |
|
Pathogenic
|
2020-09-25 | criteria provided, single submitter | xeroderma pigmentosum |
germline
|
Detail |
|
Pathogenic
|
2023-08-22 | 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.1735C>T (p.Arg579Ter) AND Xeroderma pigmentosum, group C | ClinVar | Detail |
| NM_004628.5(XPC):c.1735C>T (p.Arg579Ter) AND Xeroderma pigmentosum | ClinVar | Detail |
| NM_004628.5(XPC):c.1735C>T (p.Arg579Ter) 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
- rs121965088 dbSNP
- Genome
- hg19
- Position
- chr3:14,199,648-14,199,648
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 156.83
- Standard deviation of sample read depth (HGVD)
- 75.93
- Number of reference allele (HGVD)
- 2419
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 4.1322314049586776E-4
- Gene Symbol (HGVD)
- XPC
- East Asian Chromosome Counts (ExAC)
- 8626
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 120786
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.6558210388621197E-5
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