chr6:32039810:T>A Detail (hg38) (CYP21A2, LOC106780800)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr6:32,007,587-32,007,587 View the variant detail on this assembly version.
hg38	chr6:32,039,810-32,039,810

HGVS

CYP21A2

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000435122.3:c.623T>A	ENST00000435122.3:p.Val208Glu
	ENST00000644719.2:c.713T>A	ENST00000644719.2:p.Val238Glu

Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
Show details

Links

CYP21A2

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	tgv24809828	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	2005-04-01	no assertion criteria provided	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	germline	Detail
Pathogenic	2013-08-29	no assertion criteria provided	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	not provided	Detail
Conflicting interpretations of pathogenicity	2022-10-31	criteria provided, conflicting interpretations	not provided	germline unknown	Detail
Uncertain significance	2022-05-22	criteria provided, single submitter	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	germline	Detail
Likely pathogenic	2023-12-08	criteria provided, single submitter	congenital adrenal hyperplasia	germline	Detail
Pathogenic	2022-09-30	criteria provided, single submitter	congenital adrenal hyperplasia	germline	Detail
Uncertain significance	2022-10-19	criteria provided, single submitter	not specified	germline	Detail
Pathogenic	2022-10-19	criteria provided, single submitter	congenital adrenal hyperplasia	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
0.303	Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Detection and assignment of CYP21 mutations using peptide mass signature genotyp...	UNIPROT	15110320	Detail
0.155	21-hydroxylase deficiency	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000500.7(CYP21A2):c.[710T>A;713T>A;719T>A] AND Classic congenital adrenal hyperplasia due to 21-h...	ClinVar	Detail
NM_000500.5(CYP21A2):c.[701T>A;713T>A;719T>A] AND Classic congenital adrenal hyperplasia due to 21-h...	ClinVar	Detail
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) AND not provided	ClinVar	Detail
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) AND Classic congenital adrenal hyperplasia due to 21-hyd...	ClinVar	Detail
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) AND Congenital adrenal hyperplasia	ClinVar	Detail
NM_000500.7(CYP21A2):c.[710T>A;713T>A;719T>A] AND Congenital adrenal hyperplasia	ClinVar	Detail
NM_000500.9(CYP21A2):c.[713T>A;719T>A] AND not specified	ClinVar	Detail
NM_000500.9(CYP21A2):c.[710T>A;713T>A] AND Congenital adrenal hyperplasia	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
Detection and assignment of CYP21 mutations using peptide mass signature genotyping.	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: rs6476 dbSNP
Genome: hg38
Position: chr6:32,039,810-32,039,810
Variant Type: snv
Reference Allele: T
Alternative Allele: A

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