chr16:14020487:G>C Detail (hg19) (ERCC4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:14,020,487-14,020,487 |
| hg38 | chr16:13,926,630-13,926,630 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005236.2:c.458G>C | NP_005227.1:p.Arg153Pro |
| Ensemble | ENST00000311895.8:c.458G>C | ENST00000311895.8:p.Arg153Pro |
| ENST00000575156.5:c.458G>C | ENST00000575156.5:p.Arg153Pro |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| 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
|
2006-12-21 | no assertion criteria provided | XFE progeroid syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.003 | xeroderma pigmentosum | In an attempt to determine how mutations in XPF can lead to such diverse symptom... | BeFree | 20221251 | Detail |
| <0.001 | progeria | In an attempt to determine how mutations in XPF can lead to such diverse symptom... | BeFree | 20221251 | Detail |
| 0.360 | XFE progeroid syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005236.3(ERCC4):c.458G>C (p.Arg153Pro) AND XFE progeroid syndrome | ClinVar | Detail |
| In an attempt to determine how mutations in XPF can lead to such diverse symptoms, the effects of a ... | DisGeNET | Detail |
| In an attempt to determine how mutations in XPF can lead to such diverse symptoms, the effects of a ... | DisGeNET | 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
- rs121913050 dbSNP
- Genome
- hg19
- Position
- chr16:14,020,487-14,020,487
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1555350127108852E-4
- Chromosome Counts in All Race (ExAC)
- 121408
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.236689509752241E-6
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