chr6:32007967:>T Detail (hg19) (CYP21A2, TNXB, LOC106780800)

Information

Genome

Assembly Position
hg19 chr6:32,007,967-32,007,967
hg38 chr6:32,040,190-32,040,190 

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000435122.3:c.833_834insT ENST00000435122.3:p.Leu278PhefsTer6
ENST00000644719.2:c.923_924insT ENST00000644719.2:p.Leu308PhefsTer6
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 Conflicting classifications of pathogenicity
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 tgv24809914 TogoVar
COSMIC COSM1249567 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-03-26 criteria provided, conflicting interpretations Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency germline not provided unknown Detail
Pathogenic 2003-08-01 no assertion criteria provided Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency germline Detail
Pathogenic 2023-04-13 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) AND Classic congenital adrenal hyperplasia due to 21-hydr... ClinVar Detail
NM_000500.7(CYP21A2):c.[844G>T;920_921insT;955C>T;1069C>T] AND Classic congenital adrenal hyperplasi... ClinVar Detail
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) AND not provided ClinVar 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
rs267606756 dbSNP
Genome
hg19
Position
chr6:32,007,967-32,007,967
Variant Type
snv
Reference Allele
-
Alternative Allele
T
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))
rs267606756
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0009
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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