chr6:32006858:C>A Detail (hg19) (CYP21A2, LOC106780800)

Information

Genome

Assembly Position
hg19 chr6:32,006,858-32,006,858
hg38 chr6:32,039,081-32,039,081 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000435122.3:c.203-13C>A
ENST00000644719.2:c.293-13C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.670
ToMMo:0.666
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.716

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 613815 OMIM
HGNC 2600 HGNC
Ensembl ENSG00000231852 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24809667 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2014-09-23 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2021-05-12 criteria provided, single submitter Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.155 21-hydroxylase deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000500.9(CYP21A2):c.293-13C>A AND not specified ClinVar Detail
NM_000500.9(CYP21A2):c.293-13C>A AND Classic congenital adrenal hyperplasia due to 21-hydroxylase de... ClinVar Detail
NM_000500.9(CYP21A2):c.293-13C>A AND not provided ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6467 dbSNP
Genome
hg19
Position
chr6:32,006,858-32,006,858
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
797
Mean of sample read depth (HGVD)
62.78
Standard deviation of sample read depth (HGVD)
32.24
Number of reference allele (HGVD)
523
Number of alternative allele (HGVD)
1064
Allele Frequency (HGVD)
0.6704473850031506
Gene Symbol (HGVD)
CYP21A2
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs6467
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6658
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11158
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
6524
East Asian Allele Counts (ExAC)
4672
East Asian Heterozygous Counts (ExAC)
1553
East Asian Homozygous Counts (ExAC)
1556
East Asian Allele Frequency (ExAC)
0.7161250766400981
Chromosome Counts in All Race (ExAC)
87414
Allele Counts in All Race (ExAC)
61716
Heterozygous Counts in All Race (ExAC)
21057
Homozygous Counts in All Race (ExAC)
20264
Allele Frequency in All Race (ExAC)
0.7060196307227675
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