chr6:32040485:G>A Detail (hg38) (CYP21A2, LOC106780800)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:32,008,262-32,008,262 View the variant detail on this assembly version. |
| hg38 | chr6:32,040,485-32,040,485 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000435122.3:c.929G>A | ENST00000435122.3:p.Arg310His |
| ENST00000644719.2:c.1019G>A | ENST00000644719.2:p.Arg340His |
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 |
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
|
2023-07-26 | criteria provided, single submitter | 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.[1019G>A;1360C>T] AND Classic congenital adrenal hyperplasia due to 21-hydrox... | ClinVar | Detail |
| NM_000500.9(CYP21A2):c.1019G>A (p.Arg340His) 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
- rs72552754 dbSNP
- Genome
- hg38
- Position
- chr6:32,040,485-32,040,485
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8532
- 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)
- 115632
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.64812508648125E-6
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