chr3:48604152:C>T Detail (hg19) (COL7A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:48,604,152-48,604,152 |
| hg38 | chr3:48,566,719-48,566,719 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000094.3:c.8245G>A | NP_000085.1:p.Gly2749Arg |
| Ensemble | ENST00000328333.12:c.8245G>A | ENST00000328333.12:p.Gly2749Arg |
| ENST00000681320.1:c.8245G>A | ENST00000681320.1:p.Gly2749Arg |
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
|
2020-07-22 | criteria provided, single submitter | recessive dystrophic epidermolysis bullosa |
biparental
germline
|
Detail |
|
Pathogenic
|
2024-01-25 | criteria provided, single submitter | not provided |
germline
|
Detail |
Likely pathogenic
|
2021-08-02 | no assertion criteria provided | epidermolysis bullosa dystrophica |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.458 | Hallopeau-Siemens Disease | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000094.4(COL7A1):c.8245G>A (p.Gly2749Arg) AND Recessive dystrophic epidermolysis bullosa | ClinVar | Detail |
| NM_000094.4(COL7A1):c.8245G>A (p.Gly2749Arg) AND not provided | ClinVar | Detail |
| NM_000094.4(COL7A1):c.8245G>A (p.Gly2749Arg) AND Epidermolysis bullosa dystrophica | 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
- rs121912853 dbSNP
- Genome
- hg19
- Position
- chr3:48,604,152-48,604,152
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8650
- 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)
- 120818
- 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)
- 1.6553824761211077E-5
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