chr6:32039807:TCGTGGAGAT>ACGAGGAGAA Detail (hg38) (CYP21A2, LOC106780800)

Information

Genome

Assembly Position
hg19 chr6:32,007,584-32,007,593 View the variant detail on this assembly version.
hg38 chr6:32,039,807-32,039,816

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000435122.3:c.620_629delinsACGAGGAGAA ENST00000435122.3:p.Ile207_Met210delinsAsnGluGluLys
ENST00000644719.2:c.710_719delinsACGAGGAGAA ENST00000644719.2:p.Ile237_Met240delinsAsnGluGluLys
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 2019-12-26 criteria provided, single submitter Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency unknown Detail
Pathogenic 2023-04-13 criteria provided, single submitter not provided unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.155 21-hydroxylase deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000500.9(CYP21A2):c.710_719delinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) AND Classic conge... ClinVar Detail
NM_000500.9(CYP21A2):c.710_719delinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) AND not provided ClinVar 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
rs786204728 dbSNP
Genome
hg38
Position
chr6:32,039,807-32,039,816
Variant Type
snv
Reference Allele
TCGTGGAGAT
Alternative Allele
ACGAGGAGAA
Genome browser