chr6:32040140:G>A Detail (hg38) (CYP21A2, LOC106780800)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:32,007,917-32,007,917 View the variant detail on this assembly version. |
| hg38 | chr6:32,040,140-32,040,140 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000435122.3:c.784G>A | ENST00000435122.3:p.Gly262Ser |
| ENST00000644719.2:c.874G>A | ENST00000644719.2:p.Gly292Ser |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
1992-08-01 | no assertion criteria provided | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-08-29 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.294 | congenital adrenal hyperplasia | Three mutants (deletion of E196, G291S, and R483P) of steroid 21-hydroxylase (P4... | BeFree | 9497336 | Detail |
| 0.155 | 21-hydroxylase deficiency | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser) AND Classic congenital adrenal hyperplasia due to 21-hyd... | ClinVar | Detail |
| NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser) AND not provided | ClinVar | Detail |
| Three mutants (deletion of E196, G291S, and R483P) of steroid 21-hydroxylase (P450c21) from patients... | DisGeNET | 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
- rs201552310 dbSNP
- Genome
- hg38
- Position
- chr6:32,040,140-32,040,140
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser