chr6:32007887:G>C Detail (hg19) (CYP21A2, LOC106780800)

Information

Genome

Assembly Position
hg19 chr6:32,007,887-32,007,887
hg38 chr6:32,040,110-32,040,110 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000435122.3:c.754G>C ENST00000435122.3:p.Val252Leu
ENST00000644719.2:c.844G>C ENST00000644719.2:p.Val282Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency unknown 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
0.018 Hypertensive disease The CYP3A5 genotype was related with blood pressure in the general population, b... BeFree 20617557 Detail
0.003 Hypertensive disease The CYP3A5 genotype was related with blood pressure in the general population, b... BeFree 20617557 Detail
0.008 Hypertensive disease The CYP3A5 genotype was related with blood pressure in the general population, b... BeFree 20617557 Detail
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
0.042 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 First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adren... BeFree 18028896 Detail
0.009 polycystic ovary syndrome Lack of association between CYP21 V281L variant and polycystic ovary syndrome in... BeFree 20201644 Detail
0.155 21-hydroxylase deficiency To report a first case of 21-hydroxylase deficiency associated with a new genoty... BeFree 18028896 Detail
0.042 Chronic active hepatitis Five patients, one of whom had a normal 17-OHP response to Synacthen, were heter... BeFree 9579234 Detail
0.303 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency To report a first case of 21-hydroxylase deficiency associated with a new genoty... BeFree 18028896 Detail
0.155 21-hydroxylase deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000500.9(CYP21A2):c.844G>C (p.Val282Leu) AND Classic congenital adrenal hyperplasia due to 21-hyd... 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
The CYP3A5 genotype was related with blood pressure in the general population, but the effect on the... DisGeNET Detail
The CYP3A5 genotype was related with blood pressure in the general population, but the effect on the... DisGeNET Detail
The CYP3A5 genotype was related with blood pressure in the general population, but the effect on the... DisGeNET Detail
Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 2... DisGeNET Detail
We suggest that P30L mutation is more frequent in Japanese NC CAH than V281L and that the frequency ... DisGeNET Detail
First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form.... DisGeNET Detail
Lack of association between CYP21 V281L variant and polycystic ovary syndrome in Italian women. DisGeNET Detail
To report a first case of 21-hydroxylase deficiency associated with a new genotype determined by V28... DisGeNET Detail
Five patients, one of whom had a normal 17-OHP response to Synacthen, were heterozygous for the val ... DisGeNET Detail
To report a first case of 21-hydroxylase deficiency associated with a new genotype determined by V28... 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
rs6471 dbSNP
Genome
hg19
Position
chr6:32,007,887-32,007,887
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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