chr6:32008198:C>T Detail (hg19) (CYP21A2, TNXB, LOC106780800)

Information

Genome

Assembly Position
hg19 chr6:32,008,198-32,008,198
hg38 chr6:32,040,421-32,040,421 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000435122.3:c.865C>T ENST00000435122.3:p.Gln289Ter
ENST00000644719.2:c.955C>T ENST00000644719.2:p.Gln319Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.002
ToMMo:0.013
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 tgv24809944 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-03-17 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 2023-06-07 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2022-03-20 criteria provided, single submitter congenital adrenal hyperplasia germline Detail
Pathogenic 2024-02-06 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
0.042 Chronic active hepatitis Genotyping for the four common mutations (IVS2-13A/C&gt;G, p.Q318X, large lesion... BeFree 18973462 Detail
0.294 congenital adrenal hyperplasia Discrimination between a normal (Q318X mutation on one of the duplicated CYP21A2... BeFree 19773403 Detail
0.155 21-hydroxylase deficiency Earlier we had reported a large prevalence of the Q318X mutation in the CYP21A2 ... BeFree 21532487 Detail
0.303 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydr... BeFree 18973462 Detail
0.303 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Earlier we had reported a large prevalence of the Q318X mutation in the CYP21A2 ... BeFree 21532487 Detail
0.155 21-hydroxylase deficiency CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydr... BeFree 18973462 Detail
0.155 21-hydroxylase deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) AND Classic congenital adrenal hyperplasia due to 21-hyd... ClinVar Detail
NM_000500.7(CYP21A2):c.[844G>T;920_921insT;955C>T;1069C>T] AND Classic congenital adrenal hyperplasi... ClinVar Detail
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) AND not provided ClinVar Detail
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) AND Congenital adrenal hyperplasia ClinVar Detail
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) 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
Genotyping for the four common mutations (IVS2-13A/C&gt;G, p.Q318X, large lesions of the CYP21A2 gen... DisGeNET Detail
Discrimination between a normal (Q318X mutation on one of the duplicated CYP21A2 genes) and a congen... DisGeNET Detail
Earlier we had reported a large prevalence of the Q318X mutation in the CYP21A2 gene with 35.3% in T... DisGeNET Detail
CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: ... DisGeNET Detail
Earlier we had reported a large prevalence of the Q318X mutation in the CYP21A2 gene with 35.3% in T... DisGeNET Detail
CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: ... 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
rs7755898 dbSNP
Genome
hg19
Position
chr6:32,008,198-32,008,198
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
617
Mean of sample read depth (HGVD)
7.12
Standard deviation of sample read depth (HGVD)
11.59
Number of reference allele (HGVD)
1232
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
0.0016207455429497568
Gene Symbol (HGVD)
CYP21A2
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
VQSRTrancheSNP99.80to99.90
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs7755898
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0129
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
216
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16756
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