RGD:11599871 Rat Genome Database

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Variant: RGD:11599871 -  Homo sapiens

RGD ID: 11599871
RS ID: rs4539
ClinVar ID: CV313361
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP11B2  LOC106799834  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 143,996,539
GRCh38 8 142,915,123
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_000498.3:c.518A>G
NG_008374.1:g.7721A>G
NC_000008.11:g.142915123T>C
NC_000008.10:g.143996539T>C
More... 		07/01/2021 missense variant benign adolescent|childhood 18 alpha hydroxylase deficiency; 18 Hydroxylase deficiency; 18-OXIDASE DEFICIENCY; ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME; Aldosterone deficiency 1; Aldosterone deficiency due to defect in 18 hydroxylase; ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE; ALDOSTERONE DEFICIENCY DUE TO DEFICIENCY OF STEROID 18-OXIDASE; ALDOSTERONE DEFICIENCY I; ALDOSTERONE DEFICIENCY II; ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE; AllHighlyPenetrant; CMO 1 deficiency; CMO I DEFICIENCY; CMO II DEFICIENCY; Corticosterone methyloxidase type 1 deficiency; Corticosterone methyloxidase type 2 deficiency; FH I; GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM; Hyperaldosteronism, familial, type I; none provided; STEROID 18-HYDROXYLASE DEFICIENCY; STEROID 18-OXIDASE DEFICIENCY

Variant Details
Variant Transcripts
Gene Symbol:CYP11B2
Accession:NM_000498
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRAKAEVCVAAPWLSLQRARALGTRAARAPRTVLPFEAMPQHPGNRWLRLLQIWREQGYEHLHLEMHQTFQELGPIFR
YNLGGPRMVCVMLPEDVEKLQQVDSLHPCRMILEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPDVLSPKAVQRFLPM
VDAVARDFSQALRKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFM
PRSLSRWISPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFNRPQHYTGIVAELLLKAELSLEAIKANSMELTAGSVDTTA
FPLLMTLFELARNPDVQQILRQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLERVVSSDLVLQNYHIPAG
TLVQVFLYSLGRNAALFPRPERYNPQRWLDIRGSGRNFHHVPFGFGMRQCLGRRLAEAEMLLLLHHVLKHFLVETLTQED
IKMVYSFILRPGTSPLLTFRAIN*
Variant Samples
Additional References at PubMed
PMID:8954040   PMID:16118341   PMID:22931312   PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000269208 CLINVAR
  RCV000307908 CLINVAR
  RCV000366140 CLINVAR
  RCV000609130 CLINVAR
  RCV001275480 CLINVAR
  RCV001520473 CLINVAR
  RCV002488813 CLINVAR
dbSNP (RS) rs4539 CLINVAR
MedGen C0268293 CLINVAR
  C3463917 CLINVAR
  C3661900 CLINVAR
  C3838731 CLINVAR
  CN169374 CLINVAR
NCBI Gene 106799834 CLINVAR
  CYP11B2 CLINVAR
OMIM 103900 CLINVAR
  124080 CLINVAR
  203400 CLINVAR
  610600 CLINVAR
SNOMED CT 47757001 CLINVAR