chr6:32039133:GAGACTAC> Detail (hg38) (CYP21A2, LOC106780800)

Information

Genome

Assembly Position
hg19 chr6:32,006,910-32,006,917 
hg38 chr6:32,039,133-32,039,140

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000435122.3:c.242_249delGAGACTAC ENST00000435122.3:p.Gly81ValfsTer21
ENST00000644719.2:c.332_339delGAGACTAC ENST00000644719.2:p.Gly111ValfsTer21
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 tgv24809685 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-05-19 criteria provided, multiple submitters, no conflicts Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency germline not provided unknown Detail
Pathogenic 2023-09-13 criteria provided, multiple submitters, no conflicts not provided germline 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.332_339del (p.Gly111fs) AND Classic congenital adrenal hyperplasia due to 21-... ClinVar Detail
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs) 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
rs387906510 dbSNP
Genome
hg38
Position
chr6:32,039,133-32,039,140
Variant Type
snv
Reference Allele
GAGACTAC
Alternative Allele
-
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
VQSRTrancheINDEL99.00to99.90
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs387906510
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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