chr8:142875012:C>T Detail (hg38) (CYP11B1, LOC106799833)

Information

Genome

Assembly Position
hg19 chr8:143,956,428-143,956,428 View the variant detail on this assembly version.
hg38 chr8:142,875,012-142,875,012

HGVS

Type Transcript Protein
RefSeq NM_000497.3:c.1343G>A NP_000488.3:p.Arg448His
NM_001026213.1:c.1200+222G>A
Ensemble ENST00000292427.10:c.1343G>A ENST00000292427.10:p.Arg448His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-10-17 criteria provided, multiple submitters, no conflicts Deficiency of steroid 11-beta-monooxygenase germline unknown Detail
Pathogenic 2023-09-27 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2019-04-04 criteria provided, single submitter glucocorticoid-remediable aldosteronism unknown Detail
Pathogenic 2021-07-15 criteria provided, single submitter glucocorticoid-remediable aldosteronism,Deficiency of steroid 11-beta-monooxygenase unknown Detail
Pathogenic 2021-07-15 criteria provided, single submitter glucocorticoid-remediable aldosteronism,Deficiency of steroid 11-beta-monooxygenase unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.008 11-Beta-hydroxylase deficiency Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a n... BeFree 20024693 Detail
0.008 11-Beta-hydroxylase deficiency Absence of steroid biosynthetic defects in heterozygote individuals for classic ... BeFree 8530633 Detail
0.488 Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxyla... BeFree 2022736 Detail
0.488 Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Evidence for endocrinological abnormalities in heterozygotes for adrenal 11 beta... BeFree 9329393 Detail
<0.001 Familial Testotoxicosis We found the typical plasma steroid pattern of 11 beta-hydroxylase deficiency an... BeFree 9329393 Detail
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
0.008 11-Beta-hydroxylase deficiency A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxyla... BeFree 2022736 Detail
0.488 Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a n... BeFree 20024693 Detail
0.488 Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Absence of steroid biosynthetic defects in heterozygote individuals for classic ... BeFree 8530633 Detail
0.008 11-Beta-hydroxylase deficiency Evidence for endocrinological abnormalities in heterozygotes for adrenal 11 beta... BeFree 9329393 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His) AND Deficiency of steroid 11-beta-monooxygenase ClinVar Detail
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His) AND not provided ClinVar Detail
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His) AND Glucocorticoid-remediable aldosteronism ClinVar Detail
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His) AND multiple conditions ClinVar Detail
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His) AND multiple conditions ClinVar Detail
Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in int... DisGeNET Detail
Absence of steroid biosynthetic defects in heterozygote individuals for classic 11 beta-hydroxylase ... DisGeNET Detail
A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jew... DisGeNET Detail
Evidence for endocrinological abnormalities in heterozygotes for adrenal 11 beta-hydroxylase deficie... DisGeNET Detail
We found the typical plasma steroid pattern of 11 beta-hydroxylase deficiency and identified the R44... DisGeNET Detail
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with... DisGeNET Detail
A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jew... DisGeNET Detail
Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in int... DisGeNET Detail
Absence of steroid biosynthetic defects in heterozygote individuals for classic 11 beta-hydroxylase ... DisGeNET Detail
Evidence for endocrinological abnormalities in heterozygotes for adrenal 11 beta-hydroxylase deficie... 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
rs28934586 dbSNP
Genome
hg38
Position
chr8:142,875,012-142,875,012
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121016
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6526740265749982E-5
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