chr19:45858032:T>G Detail (hg19) (ERCC2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:45,858,032-45,858,032 |
| hg38 | chr19:45,354,774-45,354,774 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000400.3:c.1621A>C | NP_000391.1:p.Ser541Arg |
| Ensemble | ENST00000391944.8:c.1621A>C | ENST00000391944.8:p.Ser541Arg |
| ENST00000391945.10:c.1621A>C | ENST00000391945.10:p.Ser541Arg |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:<0.001 | |
| 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
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000154) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
1997-01-01 | no assertion criteria provided | Xeroderma pigmentosum, group D |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.565 | Xeroderma Pigmentosum, Complementation Group D | NA | CLINVAR | Detail | |
| 0.565 | Xeroderma Pigmentosum, Complementation Group D | Here we report on two causative mutations of the XPD gene in XP61OS, a Japanese ... | UNIPROT | 9101292 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000400.4(ERCC2):c.1621A>C (p.Ser541Arg) AND Xeroderma pigmentosum, group D | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Here we report on two causative mutations of the XPD gene in XP61OS, a Japanese XP group D patient w... | 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
- rs121913019 dbSNP
- Genome
- hg19
- Position
- chr19:45,858,032-45,858,032
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- 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))
- rs121913019
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0002
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8648
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1563367252543941E-4
- Chromosome Counts in All Race (ExAC)
- 121340
- 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)
- 8.241305422778968E-6
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