chr6:32041006:C>T Detail (hg38) (CYP21A2, LOC106780800, LOC110631417)

Information

Genome

Assembly Position
hg19 chr6:32,008,783-32,008,783 View the variant detail on this assembly version.
hg38 chr6:32,041,006-32,041,006

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000435122.3:c.1270C>T ENST00000435122.3:p.Pro424Ser
ENST00000644719.2:c.1360C>T ENST00000644719.2:p.Pro454Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 tgv341125191 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1997-01-01 no assertion criteria provided Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency germline Detail
Pathogenic Likely pathogenic 2023-07-26 criteria provided, multiple submitters, no conflicts Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency germline unknown Detail
Pathogenic 1992-08-01 no assertion criteria provided Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency germline Detail
Pathogenic 2023-08-04 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2021-07-26 criteria provided, single submitter Congenital lipoid adrenal hyperplasia due to STAR deficency germline Detail
Pathogenic 2023-12-16 criteria provided, single submitter CYP21A2-related disorder germline Detail
Pathogenic 2022-08-19 criteria provided, single submitter unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.303 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 pati... UNIPROT 20080860 Detail
0.155 21-hydroxylase deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000500.9(CYP21A2):c.[-4C>T;1360C>T317C>T] AND Classic congenital adrenal hyperplasia due to 21-hy... ClinVar Detail
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) AND Classic congenital adrenal hyperplasia due to 21-hy... ClinVar Detail
NM_000500.9(CYP21A2):c.[1019G>A;1360C>T] AND Classic congenital adrenal hyperplasia due to 21-hydrox... ClinVar Detail
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) AND not provided ClinVar Detail
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) AND Congenital lipoid adrenal hyperplasia due to STAR d... ClinVar Detail
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) AND CYP21A2-related disorder ClinVar Detail
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) AND See cases ClinVar Detail
Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 2... 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
rs6470 dbSNP
Genome
hg38
Position
chr6:32,041,006-32,041,006
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
228
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
12730
Allele Counts in All Race (ExAC)
29
Heterozygous Counts in All Race (ExAC)
29
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.0022780832678711703
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