chr6:32038468:G>A Detail (hg38) (CYP21A2)

Information

Genome

Assembly Position
hg19 chr6:32,006,245-32,006,245 View the variant detail on this assembly version.
hg38 chr6:32,038,468-32,038,468

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000435122.3:c.46G>A ENST00000435122.3:p.Ala16Thr
ENST00000644719.2:c.46G>A ENST00000644719.2:p.Ala16Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Chronic active hepatitis By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusi... BeFree 15126570 Detail
0.042 Chronic active hepatitis By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusi... BeFree 15126570 Detail
<0.001 Chronic active hepatitis By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusi... BeFree 15126570 Detail
0.303 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Functional analysis of two recurrent amino acid substitutions in the CYP21 gene ... UNIPROT 15126570 Detail
<0.001 hypertrichosis By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusi... BeFree 15126570 Detail
<0.001 hypertrichosis By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusi... BeFree 15126570 Detail
<0.001 hypertrichosis By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusi... BeFree 15126570 Detail
<0.001 Chronic active hepatitis By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusi... BeFree 15126570 Detail
<0.001 hypertrichosis By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusi... BeFree 15126570 Detail
Annotation

Annotations

DescrptionSourceLinks
By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downst... DisGeNET Detail
By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downst... DisGeNET Detail
By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downst... DisGeNET Detail
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patient... DisGeNET Detail
By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downst... DisGeNET Detail
By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downst... DisGeNET Detail
By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downst... DisGeNET Detail
By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downst... DisGeNET Detail
By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downst... 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
rs63749090 dbSNP
Genome
hg38
Position
chr6:32,038,468-32,038,468
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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