chr6:32039162:A>C Detail (hg38) (CYP21A2, LOC106780800)

Information

Genome

Assembly Position
hg19 chr6:32,006,939-32,006,939 View the variant detail on this assembly version.
hg38 chr6:32,039,162-32,039,162

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000435122.3:c.271A>C ENST00000435122.3:p.Lys91Gln
ENST00000644719.2:c.361A>C ENST00000644719.2:p.Lys121Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2008-07-01 no assertion criteria provided Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.303 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Our objective was to study the functional and structural consequences of the nov... BeFree 18445671 Detail
0.155 21-hydroxylase deficiency Our objective was to study the functional and structural consequences of the nov... BeFree 18445671 Detail
0.155 21-hydroxylase deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000500.9(CYP21A2):c.361A>C (p.Lys121Gln) AND Classic congenital adrenal hyperplasia due to 21-hyd... ClinVar Detail
Our objective was to study the functional and structural consequences of the novel CYP21A2 missense ... DisGeNET Detail
Our objective was to study the functional and structural consequences of the novel CYP21A2 missense ... 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
rs267606757 dbSNP
Genome
hg38
Position
chr6:32,039,162-32,039,162
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Genome browser