chr3:48585691:G>A Detail (hg38) (COL7A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:48,623,124-48,623,124 View the variant detail on this assembly version. |
| hg38 | chr3:48,585,691-48,585,691 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000094.3:c.3830C>T | NP_000085.1:p.Pro1277Leu |
| Ensemble | ENST00000328333.12:c.3830C>T | ENST00000328333.12:p.Pro1277Leu |
| ENST00000681320.1:c.3830C>T | ENST00000681320.1:p.Pro1277Leu |
Summary
MGeND
| Clinical significance |
Benign
|
| 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:0.002 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Benign
|
Centenarian |
germline
|
MGS000068
(TMGS000140) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
criteria provided, single submitter | not specified |
germline
|
Detail | |
|
Benign
|
2018-01-13 | criteria provided, single submitter | epidermolysis bullosa dystrophica |
germline
|
Detail |
|
Benign
|
2018-05-31 | criteria provided, single submitter | recessive dystrophic epidermolysis bullosa |
unknown
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
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.3830C>T (p.Pro1277Leu) AND not specified | ClinVar | Detail |
| NM_000094.4(COL7A1):c.3830C>T (p.Pro1277Leu) AND Epidermolysis bullosa dystrophica | ClinVar | Detail |
| NM_000094.4(COL7A1):c.3830C>T (p.Pro1277Leu) AND Recessive dystrophic epidermolysis bullosa | ClinVar | Detail |
| NM_000094.4(COL7A1):c.3830C>T (p.Pro1277Leu) AND not provided | 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
- rs35761247 dbSNP
- Genome
- hg38
- Position
- chr3:48,585,691-48,585,691
- 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))
- rs35761247
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0011
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 18
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 15
- East Asian Heterozygous Counts (ExAC)
- 15
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0017333025190663276
- Chromosome Counts in All Race (ExAC)
- 121356
- Allele Counts in All Race (ExAC)
- 5075
- Heterozygous Counts in All Race (ExAC)
- 4783
- Homozygous Counts in All Race (ExAC)
- 146
- Allele Frequency in All Race (ExAC)
- 0.04181911071558061
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