chr16:13949157:G>A Detail (hg38) (ERCC4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:14,043,014-14,043,014 View the variant detail on this assembly version. |
| hg38 | chr16:13,949,157-13,949,157 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005236.2:c.*810G>A | |
| Ensemble | ENST00000311895.8:c.*810G>A | |
| ENST00000682617.1:c.*810G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.238 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2018-01-13 | criteria provided, single submitter | Xeroderma pigmentosum, group F |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.003 | Xeroderma pigmentosum, group F | In conclusion, we found that ERCC1 rs11615 and XPF rs2276465 may substantially c... | BeFree | 24793015 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005236.3(ERCC4):c.*810G>A AND Xeroderma pigmentosum, group F | ClinVar | Detail |
| In conclusion, we found that ERCC1 rs11615 and XPF rs2276465 may substantially contribute to the fut... | 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
- rs2276465 dbSNP
- Genome
- hg38
- Position
- chr16:13,949,157-13,949,157
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs2276465
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2376
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3983
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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