chr6:32039118:C>T Detail (hg38) (CYP21A2, LOC106780800, LOC110631417)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:32,006,895-32,006,895 View the variant detail on this assembly version. |
| hg38 | chr6:32,039,118-32,039,118 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000435122.3:c.227C>T | ENST00000435122.3:p.Pro76Leu |
| ENST00000644719.2:c.317C>T | ENST00000644719.2:p.Pro106Leu |
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 | no classification for the single variant |
| 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 |
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 |
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
- hg38
- Position
- chr6:32,039,118-32,039,118
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 7024
- 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)
- 96254
- Allele Counts in All Race (ExAC)
- 10
- Heterozygous Counts in All Race (ExAC)
- 10
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.0389178631537391E-4
Genome browser