chr8:142879686:C>T Detail (hg38) (CYP11B1)

Information

Genome

Assembly Position
hg19 chr8:143,961,102-143,961,102 View the variant detail on this assembly version.
hg38 chr8:142,879,686-142,879,686

HGVS

Type Transcript Protein
RefSeq NM_000497.3:c.128G>A NP_000488.3:p.Arg43Gln
NM_001026213.1:c.128G>A NP_001021384.1:p.Arg43Gln
Ensemble ENST00000292427.10:c.128G>A ENST00000292427.10:p.Arg43Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.437
ToMMo:0.438
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.459

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 610613 OMIM
HGNC 2591 HGNC
Ensembl ENSG00000160882 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv35056432 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2017-04-27 criteria provided, single submitter glucocorticoid-remediable aldosteronism germline Detail
Benign 2020-04-17 criteria provided, multiple submitters, no conflicts Deficiency of steroid 11-beta-monooxygenase germline Detail
Benign 2024-02-01 criteria provided, single submitter not provided germline Detail
Likely benign 2021-12-10 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.488 Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Functional consequences of seven novel mutations in the CYP11B1 gene: four mutat... UNIPROT 20089618 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000497.4(CYP11B1):c.128G>A (p.Arg43Gln) AND Glucocorticoid-remediable aldosteronism ClinVar Detail
NM_000497.4(CYP11B1):c.128G>A (p.Arg43Gln) AND Deficiency of steroid 11-beta-monooxygenase ClinVar Detail
NM_000497.4(CYP11B1):c.128G>A (p.Arg43Gln) AND not provided ClinVar Detail
NM_000497.4(CYP11B1):c.128G>A (p.Arg43Gln) AND not specified ClinVar Detail
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with... 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
rs4534 dbSNP
Genome
hg38
Position
chr8:142,879,686-142,879,686
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
209.85
Standard deviation of sample read depth (HGVD)
95.76
Number of reference allele (HGVD)
1363
Number of alternative allele (HGVD)
1057
Allele Frequency (HGVD)
0.43677685950413225
Gene Symbol (HGVD)
CYP11B1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs4534
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4382
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7344
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8616
East Asian Allele Counts (ExAC)
3954
East Asian Heterozygous Counts (ExAC)
2158
East Asian Homozygous Counts (ExAC)
898
East Asian Allele Frequency (ExAC)
0.45891364902506965
Chromosome Counts in All Race (ExAC)
121340
Allele Counts in All Race (ExAC)
9752
Heterozygous Counts in All Race (ExAC)
7252
Homozygous Counts in All Race (ExAC)
1250
Allele Frequency in All Race (ExAC)
0.0803692104829405
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