chr6:32006196:C>T Detail (hg19) (CYP21A2, LOC106780800, LOC110631417)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:32,006,196-32,006,196 |
| hg38 | chr6:32,038,419-32,038,419 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000435122.3:c.-4C>T | |
| ENST00000644719.2:c.-4C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.011 |
| ToMMo:0.035 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.005 |
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 |
|---|---|---|---|---|---|
Pathogenic
|
1997-01-01 | no assertion criteria provided | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
germline
|
Detail |
|
Benign
|
criteria provided, single submitter | not specified |
germline
|
Detail | |
|
Benign
|
2021-10-08 | criteria provided, single submitter | not provided |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000500.9(CYP21A2):c.[-4C>T;1360C>T317C>T] AND Classic congenital adrenal hyperplasia due to 21-hy... | ClinVar | Detail |
| NM_000500.9(CYP21A2):c.-4C>T AND not specified | ClinVar | Detail |
| NM_000500.9(CYP21A2):c.-4C>T AND not provided | 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
- rs6470 dbSNP
- Genome
- hg19
- Position
- chr6:32,006,196-32,006,196
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- VQSRTrancheSNP99.00to99.90
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 829
- Mean of sample read depth (HGVD)
- 8.81
- Standard deviation of sample read depth (HGVD)
- 6.93
- Number of reference allele (HGVD)
- 1638
- Number of alternative allele (HGVD)
- 18
- Allele Frequency (HGVD)
- 0.010869565217391304
- Gene Symbol (HGVD)
- CYP21A2
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- VQSRTrancheSNP99.80to99.90
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs6470
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0346
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 580
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16746
- East Asian Chromosome Counts (ExAC)
- 638
- East Asian Allele Counts (ExAC)
- 3
- East Asian Heterozygous Counts (ExAC)
- 3
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.004702194357366771
- Chromosome Counts in All Race (ExAC)
- 16440
- Allele Counts in All Race (ExAC)
- 88
- Heterozygous Counts in All Race (ExAC)
- 82
- Homozygous Counts in All Race (ExAC)
- 3
- Allele Frequency in All Race (ExAC)
- 0.00535279805352798
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