chr6:32038514:C>T Detail (hg38) (CYP21A2, LOC106780800)

Information

Genome

Assembly Position
hg19 chr6:32,006,291-32,006,291 View the variant detail on this assembly version.
hg38 chr6:32,038,514-32,038,514

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000435122.3:c.92C>T ENST00000435122.3:p.Pro31Leu
ENST00000644719.2:c.92C>T ENST00000644719.2:p.Pro31Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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 tgv24809568 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-12-17 criteria provided, multiple submitters, no conflicts Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency germline unknown Detail
Pathogenic 2023-03-28 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
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
<0.001 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
0.042 Chronic active hepatitis We suggest that P30L mutation is more frequent in Japanese NC CAH than V281L and... BeFree 9881898 Detail
0.294 congenital adrenal hyperplasia We hereby describe our recent experience with the pregnancy of a patient who had... BeFree 14664429 Detail
0.303 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-h... BeFree 15670187 Detail
0.042 Chronic active hepatitis Furthermore, this novel CYP21 gene present in both CAH families showed no mutati... BeFree 12855227 Detail
0.155 21-hydroxylase deficiency Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-h... BeFree 15670187 Detail
0.155 21-hydroxylase deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) AND Classic congenital adrenal hyperplasia due to 21-hydro... ClinVar Detail
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) AND not provided ClinVar 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
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
We suggest that P30L mutation is more frequent in Japanese NC CAH than V281L and that the frequency ... DisGeNET Detail
We hereby describe our recent experience with the pregnancy of a patient who had congenital adrenal ... DisGeNET Detail
Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficienc... DisGeNET Detail
Furthermore, this novel CYP21 gene present in both CAH families showed no mutations at IVS2-12A/C&gt... DisGeNET Detail
Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficienc... 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
rs9378251 dbSNP
Genome
hg38
Position
chr6:32,038,514-32,038,514
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs9378251
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0006
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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