chr6:33139475:T>G Detail (hg19) (COL11A2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:33,139,475-33,139,475 |
| hg38 | chr6:33,171,698-33,171,698 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_080680.2:c.3150+15A>C | |
| NM_080681.2:c.2892+15A>C | ||
| Ensemble | ENST00000341947.7:c.3150+15A>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.986 |
| ToMMo:0.989 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.975 |
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
|
2016-09-29 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Benign
|
2021-07-22 | criteria provided, multiple submitters, no conflicts | otospondylomegaepiphyseal dysplasia, autosomal recessive |
germline
|
Detail |
|
Benign
|
2021-07-22 | criteria provided, multiple submitters, no conflicts | otospondylomegaepiphyseal dysplasia, autosomal dominant |
germline
|
Detail |
|
Benign
|
2021-07-22 | criteria provided, multiple submitters, no conflicts | fibrochondrogenesis 2 |
germline
|
Detail |
|
Benign
|
2016-06-14 | criteria provided, single submitter | Stickler Syndrome, Dominant |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Benign
|
2021-07-22 | criteria provided, single submitter | Autosomal dominant nonsyndromic hearing loss 13 |
germline
|
Detail |
|
Benign
|
2021-07-22 | criteria provided, single submitter | Autosomal recessive nonsyndromic hearing loss 53 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_080680.3(COL11A2):c.3150+15A>C AND not specified | ClinVar | Detail |
| NM_080680.3(COL11A2):c.3150+15A>C AND Otospondylomegaepiphyseal dysplasia, autosomal recessive | ClinVar | Detail |
| NM_080680.3(COL11A2):c.3150+15A>C AND Otospondylomegaepiphyseal dysplasia, autosomal dominant | ClinVar | Detail |
| NM_080680.3(COL11A2):c.3150+15A>C AND Fibrochondrogenesis 2 | ClinVar | Detail |
| NM_080680.3(COL11A2):c.3150+15A>C AND Stickler Syndrome, Dominant | ClinVar | Detail |
| NM_080680.3(COL11A2):c.3150+15A>C AND not provided | ClinVar | Detail |
| NM_080680.3(COL11A2):c.3150+15A>C AND Autosomal dominant nonsyndromic hearing loss 13 | ClinVar | Detail |
| NM_080680.3(COL11A2):c.3150+15A>C AND Autosomal recessive nonsyndromic hearing loss 53 | ClinVar | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2855436 dbSNP
- Genome
- hg19
- Position
- chr6:33,139,475-33,139,475
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 799
- Mean of sample read depth (HGVD)
- 287.89
- Standard deviation of sample read depth (HGVD)
- 173.17
- Number of reference allele (HGVD)
- 22
- Number of alternative allele (HGVD)
- 1576
- Allele Frequency (HGVD)
- 0.986232790988736
- Gene Symbol (HGVD)
- COL11A2
- 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))
- rs2855436
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9887
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16569
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8426
- East Asian Allele Counts (ExAC)
- 8212
- East Asian Heterozygous Counts (ExAC)
- 206
- East Asian Homozygous Counts (ExAC)
- 4003
- East Asian Allele Frequency (ExAC)
- 0.9746024210776169
- Chromosome Counts in All Race (ExAC)
- 111198
- Allele Counts in All Race (ExAC)
- 87485
- Heterozygous Counts in All Race (ExAC)
- 18131
- Homozygous Counts in All Race (ExAC)
- 34677
- Allele Frequency in All Race (ExAC)
- 0.7867497616863612
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