chr6:32006939:A>C Detail (hg19) (CYP21A2, LOC106780800)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:32,006,939-32,006,939 |
| hg38 | chr6:32,039,162-32,039,162 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000435122.3:c.271A>C | ENST00000435122.3:p.Lys91Gln |
| ENST00000644719.2:c.361A>C | ENST00000644719.2:p.Lys121Gln |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2008-07-01 | no assertion criteria provided | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.303 | Congenital adrenal hyperplasia due to 21 hydroxylase deficiency | Our objective was to study the functional and structural consequences of the nov... | BeFree | 18445671 | Detail |
| 0.155 | 21-hydroxylase deficiency | Our objective was to study the functional and structural consequences of the nov... | BeFree | 18445671 | Detail |
| 0.155 | 21-hydroxylase deficiency | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000500.9(CYP21A2):c.361A>C (p.Lys121Gln) AND Classic congenital adrenal hyperplasia due to 21-hyd... | ClinVar | Detail |
| Our objective was to study the functional and structural consequences of the novel CYP21A2 missense ... | DisGeNET | Detail |
| Our objective was to study the functional and structural consequences of the novel CYP21A2 missense ... | 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
- rs267606757 dbSNP
- Genome
- hg19
- Position
- chr6:32,006,939-32,006,939
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser