chr6:32040535:C>T Detail (hg38) (CYP21A2, TNXB, LOC106780800)

Information

Genome

Assembly Position
hg19 chr6:32,008,312-32,008,312 View the variant detail on this assembly version.
hg38 chr6:32,040,535-32,040,535

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000435122.3:c.979C>T ENST00000435122.3:p.Arg327Trp
ENST00000644719.2:c.1069C>T ENST00000644719.2:p.Arg357Trp
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.005
ToMMo:0.021
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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 tgv24809975 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-12-21 criteria provided, multiple submitters, no conflicts Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency germline unknown Detail
Pathogenic 2003-08-01 no assertion criteria provided Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency germline Detail
Pathogenic 2023-06-29 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2023-04-17 criteria provided, single submitter CYP21A2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.294 congenital adrenal hyperplasia To determine RCCX alterations, we used the polymerase chain reaction (PCR) produ... BeFree 21117955 Detail
<0.001 congenital adrenal hyperplasia To determine RCCX alterations, we used the polymerase chain reaction (PCR) produ... BeFree 21117955 Detail
0.155 21-hydroxylase deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) AND Classic congenital adrenal hyperplasia due to 21-hy... ClinVar Detail
NM_000500.7(CYP21A2):c.[844G>T;920_921insT;955C>T;1069C>T] AND Classic congenital adrenal hyperplasi... ClinVar Detail
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) AND not provided ClinVar Detail
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) AND CYP21A2-related disorder ClinVar Detail
To determine RCCX alterations, we used the polymerase chain reaction (PCR) product containing the te... DisGeNET Detail
To determine RCCX alterations, we used the polymerase chain reaction (PCR) product containing the te... 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
rs7769409 dbSNP
Genome
hg38
Position
chr6:32,040,535-32,040,535
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
VQSRTrancheSNP99.00to99.90
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
612
Mean of sample read depth (HGVD)
7.22
Standard deviation of sample read depth (HGVD)
11.85
Number of reference allele (HGVD)
1218
Number of alternative allele (HGVD)
6
Allele Frequency (HGVD)
0.004901960784313725
Gene Symbol (HGVD)
CYP21A2
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
VQSRTrancheSNP99.90to99.95
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs7769409
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0214
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
358
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16756
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