chr1:103496817:AA> Detail (hg19) (COL11A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:103,496,817-103,496,818 |
| hg38 | chr1:103,031,261-103,031,262 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001190709.1:c.652-18_652-17delTT | |
| NM_080629.2:c.652-18_652-17delTT | ||
| NM_080630.3:c.652-18_652-17delTT |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.892 |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.087 |
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
|
2015-01-17 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Benign
|
2016-06-14 | criteria provided, single submitter | Stickler Syndrome, Dominant |
germline
|
Detail |
|
Benign
|
2016-06-14 | criteria provided, single submitter | fibrochondrogenesis 1 |
germline
|
Detail |
|
Benign
|
2016-06-14 | criteria provided, single submitter | Marshall syndrome |
germline
|
Detail |
|
Benign
|
2024-01-29 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Benign
|
2021-07-20 | criteria provided, single submitter | Connective tissue disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001854.4(COL11A1):c.652-7_652-6del AND not specified | ClinVar | Detail |
| NM_001854.4(COL11A1):c.652-7_652-6del AND Stickler Syndrome, Dominant | ClinVar | Detail |
| NM_001854.4(COL11A1):c.652-7_652-6del AND Fibrochondrogenesis 1 | ClinVar | Detail |
| NM_001854.4(COL11A1):c.652-7_652-6del AND Marshall syndrome | ClinVar | Detail |
| NM_001854.4(COL11A1):c.652-7_652-6del AND not provided | ClinVar | Detail |
| NM_001854.4(COL11A1):c.652-7_652-6del AND Connective tissue disorder | ClinVar | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs36076089 dbSNP
- Genome
- hg19
- Position
- chr1:103,496,817-103,496,818
- Variant Type
- snv
- Reference Allele
- AA
- Alternative Allele
- -
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1179
- Mean of sample read depth (HGVD)
- 50.09
- Standard deviation of sample read depth (HGVD)
- 23.48
- Number of reference allele (HGVD)
- 81
- Number of alternative allele (HGVD)
- 667
- Allele Frequency (HGVD)
- 0.8917112299465241
- Gene Symbol (HGVD)
- COL11A1
- East Asian Chromosome Counts (ExAC)
- 5360
- East Asian Allele Counts (ExAC)
- 467
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0871268656716418
- Chromosome Counts in All Race (ExAC)
- 82170
- Allele Counts in All Race (ExAC)
- 6573
- Heterozygous Counts in All Race (ExAC)
- 250
- Homozygous Counts in All Race (ExAC)
- 32
- Allele Frequency in All Race (ExAC)
- 0.07999269806498722
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