chr6:32006910:GAGACTAC> Detail (hg19) (CYP21A2, LOC106780800)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:32,006,910-32,006,917 |
hg38 | chr6:32,039,133-32,039,140 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | ||
Ensemble | ENST00000435122.3:c.242_249delGAGACTAC | ENST00000435122.3:p.Gly81ValfsTer21 |
ENST00000644719.2:c.332_339delGAGACTAC | ENST00000644719.2:p.Gly111ValfsTer21 |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:<0.001 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-05-19 | criteria provided, multiple submitters, no conflicts | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
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Detail |
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2023-09-13 | criteria provided, multiple submitters, no conflicts | not provided |
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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.332_339del (p.Gly111fs) AND Classic congenital adrenal hyperplasia due to 21-... | ClinVar | Detail |
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs) AND not provided | 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
- rs387906510 dbSNP
- Genome
- hg19
- Position
- chr6:32,006,910-32,006,917
- Variant Type
- snv
- Reference Allele
- GAGACTAC
- Alternative Allele
- -
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- VQSRTrancheINDEL99.00to99.90
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs387906510
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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