RGD:8556013 Rat Genome Database

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Variant: RGD:8556013 -  Homo sapiens

RGD ID: 8556013
RS ID: rs28934586
ClinVar ID: CV16210
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP11B1  LOC106799833  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 143,956,428
GRCh38 8 142,875,012
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001026213.1:c.1200+222G>A
NG_007954.1:g.9809G>A
NC_000008.11:g.142875012C>T
NC_000008.10:g.143956428C>T
More... 		10/17/2023 intron|intron variant|missense|missense variant pathogenic|likely pathogenic 11-alpha beta-hydroxylase deficiency; 11-beta-hydroxylase deficiency; ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME; Adrenal hyperplasia 4; Adrenal hyperplasia hypertensive form; Adrenal hyperplasia IV; ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY; ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency; FH I; Glucocorticoid-remediable aldosteronism; GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM; Hyperaldosteronism, familial, type I; none provided; P450c11b1 deficiency; Steroid 11-beta-hydroxylase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYP11B1
Accession:NM_000497
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 448
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRAKAEVCMAVPWLSLQRAQALGTRAARVPRTVLPFEAMPRRPGNRWLRLLQIWREQGYEDLHLEVHQTFQELGPIFR
YDLGGAGMVCVMLPEDVEKLQQVDSLHPHRMSLEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPEVLSPNAVQRFLPM
VDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFM
PRSLSRWTSPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFSRPQQYTSIVAELLLNAELSPDAIKANSMELTAGSVDTTV
FPLLMTLFELARNPNVQQALRQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLERVASSDLVLQNYHIPAG
TLVRVFLYSLGRNPALFPRPERYNPQRWLDIRGSGRNFYHVPFGFGMHQCLGRRLAEAEMLLLLHHVLKHLQVETLTQED
IKMVYSFILRPSMFPLLTFRAIN*

Gene Symbol:CYP11B1
Accession:NM_001026213
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:2022736   PMID:7049883   PMID:8506298   PMID:16030166   PMID:20024693   PMID:20089618   PMID:22964742   PMID:25741868   PMID:27376433   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000001230 CLINVAR
  RCV000791917 CLINVAR
  RCV001199200 CLINVAR
  RCV002496223 CLINVAR
dbSNP (RS) rs28934586 CLINVAR
MedGen C0268292 CLINVAR
  C3661900 CLINVAR
  C3838731 CLINVAR
NCBI Gene 106799833 CLINVAR
  CYP11B1 CLINVAR
OMIM 103900 CLINVAR
  202010 CLINVAR
  610613 CLINVAR
OMIM Allele 610613.0001 CLINVAR
SNOMED CT 124214007 CLINVAR