chr3:14178568:T>C Detail (hg38) (XPC, LOC129936244)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:14,220,068-14,220,068 View the variant detail on this assembly version. |
| hg38 | chr3:14,178,568-14,178,568 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004628.4:c.1A>G | NP_004619.3:p.? |
| Ensemble | ENST00000285021.12:c.1A>G | ENST00000285021.12:p.? |
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 | 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 |
|---|---|---|---|---|---|
Conflicting interpretations of pathogenicity
|
2018-01-13 | criteria provided, conflicting interpretations | Xeroderma pigmentosum, group C |
germline
unknown
|
Detail |
Pathogenic
|
2023-12-15 | criteria provided, single submitter | not provided |
germline
|
Detail |
Likely pathogenic
|
2022-12-06 | criteria provided, single submitter | xeroderma pigmentosum |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004628.5(XPC):c.1A>G (p.Met1Val) AND Xeroderma pigmentosum, group C | ClinVar | Detail |
| NM_004628.5(XPC):c.1A>G (p.Met1Val) AND not provided | ClinVar | Detail |
| NM_004628.5(XPC):c.1A>G (p.Met1Val) AND Xeroderma pigmentosum | ClinVar | 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
- rs763678756 dbSNP
- Genome
- hg38
- Position
- chr3:14,178,568-14,178,568
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8514
- 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)
- 117542
- Allele Counts in All Race (ExAC)
- 5
- Heterozygous Counts in All Race (ExAC)
- 5
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.2537986421874734E-5
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