chr6:32041097:GG>C Detail (hg38) (CYP21A2, LOC106780800)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:32,008,874-32,008,875 View the variant detail on this assembly version. |
| hg38 | chr6:32,041,097-32,041,098 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000435122.3:c.1361_1362delinsC | ENST00000435122.3:p.Arg454ProfsTer58 |
| ENST00000644719.2:c.1451_1452delinsC | ENST00000644719.2:p.Arg484ProfsTer58 |
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 |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2021-03-10 | criteria provided, single submitter | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
germline
|
Detail |
|
Pathogenic
|
2023-01-09 | criteria provided, multiple submitters, no conflicts | not provided |
unknown
|
Detail |
|
Pathogenic
|
2024-02-21 | criteria provided, single submitter | CYP21A2-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.155 | 21-hydroxylase deficiency | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs) AND Classic congenital adrenal hyperplasia due ... | ClinVar | Detail |
| NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs) AND not provided | ClinVar | Detail |
| NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs) AND CYP21A2-related disorder | ClinVar | 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
- rs397509367 dbSNP
- Genome
- hg38
- Position
- chr6:32,041,097-32,041,098
- Variant Type
- snv
- Reference Allele
- GG
- Alternative Allele
- C
Genome browser